ICHG2016

SY1-1 The Current Status of Genetic Counselors in Japan [Speaker] Yasuko Yamanouchi:1 1:Genetic Counceling Program, Department of Social Work, Faculty of Health and Welfare, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare
SY1-2 The Current Status of Genetic Counselors in the US [Speaker] Anne Greb:1 1:Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College
SY1-3 The Current Status of Genetic Counselors in the UK and Australia [Speaker] Clara Gaff:1 1:Melbourne Genomics Health Alliance, University of Melbourne
SY1-Closing Remarks −

Sun(1)-PrCS-1 (Keynote) DOCUMENTING AND PRESERVING THE HISTORY OF HUMAN GENETICS - WHAT HAVE WE ACHIEVED? [Speaker] Peter S. Harper:1 1:Institute of Medical Genetics, Cardiff University, UK
Sun(1)-PrCS-2 The mission of International Federation of Human Genetic Societies [Speaker] Helena Kääriäinen:1 1:Research Professor at National Institute for Health and Welfare, Helsinki; Clinical Geneticist, Finland
Sun(1)-PrCS-3 The American Society of Human Genetics and International Human Genetics [Speaker] Nancy Cox:1 1:Vanderbilt University Medical Center, USA
Sun(1)-PrCS-4 Human Genetics in Europe: Exciting history, present fact and future1challenges [Speaker] Feliciano J. Ramos:1 1:President of European Society of Human Genetics (ESHG), Spain
Sun(1)-PrCS-5 The Human Genetics Society of Australasia (HGSA) - Current challenges [Speaker] Eric Haan:1 1:SA Pathology, Adelaide, Australia
Sun(1)-PrCS-6 Asia Pacific Society of Human Genetics [Speaker] Carmencita D. Padilla:1,2,3 1:Department of Pediatrics, College of Medicine, University of the Philippines Manila; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila; Philippine Genome Center, University of the Philippines System, Philippines, 2:Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 3:Philippine Genome Center, University of the Philippines System
Sun(1)-PrCS-7 Human Genetics in Latin America [Speaker] Roberto Giugliani:1,2,3 1:Department of Genetics, Federal University of Rio Grande do Sul (UFRGS)l; Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA); National Institute of Population Medical Genetics (INAGEMP), Brazil, 2:Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA), Brazil, 3:National Institute of Population Medical Genetics (INAGEMP), Brazil
Sun(1)-PrCS-8 The African Society of Human Genetics [Speaker] Charles N. Rotimi:1 1:Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH, USA
Sun(1)-PrCS-9 Medical Genetics Services in China [Speaker] Xue Zhang:1 1:McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, China
Sun(1)-PrCS-10 Human Genetics in Korea as a member of the EAUHGS [Speaker] Jin-Sung Lee:1 1:Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
Sun(1)-PrCS-11 Human Genetics in Japan [Speaker] Yoichi Matsubara:1 1:National Center for Child Health and Development, Japan

O-01 A case study of a baby with CHARGE syndrome and the family -involvement from hospitalization in the NICU, transfer to pediatrics pregnancy and giving a second baby birth- [Speaker] Mikiko Kaneko:1 [Author] Hidehiko Nakanishi:2, Kayoko Saito:1 1:Institute of Medical Genetics, Tokyo Women's Medical University, 2:Department of Neonatology, Maternal and Perinatal Center, Tokyo Women's Medical University
O-02 A case with de novo 4q deletion [Speaker] Akio Shibata:1 [Author] Chika Sato:2, Mariko Kakudo:2, Hiroko Mimura:2, Chiho Okada:2, Yonehiro Kanemura:3, Tomoko Shofuda:4, Maiko Misaki:1, Kumi Kawamoto:1, Kyoko Minagawa:1, Yasuhiro Takeshima:1, Tomoko Tamaoki:2,5 1:Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan, 2:Department of Clinical Genetics, Hyogo College of Medicine, Nishinomiya, Japan, 3:Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 4:Division of Stem Cell Research, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 5:Department of Genetics, Hyogo College of Medicine, Nishinomiya, Japan
O-03 Treatment and Education for autism spectrum disorder in Down syndrome children. [Speaker] Junko Kato:1 [Author] Hiroki Kurahashi:2, Tamae Ohye:3, Tsutomu Sato:4 1:Genetic Counseling Department of Clinical Laboratory Medicine, Graduate School of Health Sciences, Fujita Health University, Aichi, Japan, 2:Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan, 3:Department of Clinical Hematology, Fujita Health University, Aichi, Japan, 4:Moral Philosophy, Department of Medical, Fujita Health University, Aichi, Japan
O-04 A patient diagnosed as Noonan syndrome by pediatric cardiologist, whose guardian is able to accept the diagnosis at outpatient under diagnosed congenital chylothorax and Mental retardation. [Speaker] Kenta Tominaga:1 [Author] Hirokazu Sakamoto:2 1:Department of Cardiology, Hyogo Prefectural Kobe Children's Hospital, 2:Department of Otolaryngology, Hyogo Prefectural Kobe Children's Hospital
O-05 4 cases of 13trisomy under cardiac surgery at pediatric heart Center in Kobe Children's Hospital [Speaker] Kenta Tominaga:1 [Author] Hirokazu Sakamato:2 1:Department of Cardiology, Hyogo Prefectural Kobe Children's Hospital, 2:Department of Otolaryngology, Hyogo Prefectural Kobe Children's Hospital

O-06 Learning from 3 adult cases of genetic counseling provided to inherited carriers diagnosed in the neonatal period [Speaker] Toshiya Nishikubo:1 [Author] Kazuma Sugie:2, Katsuhiko Naruse:3, Tesseki Izumi:2, Takao Kiriyama:2, Nobuyuki Eura:2, Ryogo Syobatake:2, Hiroshi Shigetomi:3, Taihei Tsunemi:3, Chihiro Morimoto:4, Tomoyuki Kamamoto:1, Yumiko Uchida:1, Chiharu Yoshimoto:3, Toshiyuki Sado:3, Satoshi Ueno:2 1:Division of Neonatal Intensive Care, Center for Perinatal Medicine, Nara Medical University Hospital, 2:Department of Neurology, Nara Medical University Hospital, 3:Department of Obstetrics and Gynecology, Nara Medical University Hospital, 4:Department of Otolaryngology, Nara Medical University Hospital
O-07 Genetic counseling for couples with balanced structural chromosomal aberrations (couples) [Speaker] Michiko Ammae:1 [Author] Keijiro Ito:1, Takao Himeno:1, Hiroko Yamauchi:1, Yoshiharu Nakaoka:1, Yoshiharu Morimoto:2 1:IVF Namba Clinic, 2:HORAC Grand Front Osaka Clinic
O-08 Genetic counseling for chromosome abnormality found in the examine of infertility or miscarriage - the role of clinical genetics division [Speaker] Motoko Sasaki:1 [Author] Atsushi Watanabe:1, Hidehiko Miyake:1, Yumi Suzuki:1, Ai Hosaka:1, Katsuya Mine:1,2, Mirei Yonezawa:2, Tomoko Kuroda:3, Naoki Aoyama:3, Nami Kawasaki:3, Hiroko Hayashi:3, Keiichi Kato:3, Takashi Shimada:1, Toshiyuki Takeshita:2 1:Devision of Clinical Genetics, Nippon Medical School Hospital, 2:Department of Obstetrics and Gynecology, Nippon Medical School, 3:Kato Ladies Clinic
O-09 The current state of our genetic counseling and chromosome analysis [Speaker] Mayuko Machida:1 [Author] Michiko Kasajima:1, Hidetaka Kimura:1, Takumi Takeuchi:1, Koichi Kyono:1,2 1:Kyono ART Clinic Takanawa, 2:Kyono ART Clinic
O-10 A genetic counseling case in which the confirmation of the intention of the couple became difficult because of the presence of their mother [Speaker] Saeko Katsumoto:1 [Author] Ichiro Yamade:1, Hironori Hamada:1, Hiroshi Hatayama:1 1:Adachi Hospital

Mon(2)-CIS1-1 Dissecting the circuitry of FTO and adipocyte browning in human obesity [Speaker] Melina Claussnitzer:1 1:BIDMC, Harvard Medical School, USA
Mon(2)-CIS1-2 Histone Acetylome-wide Association Studies [Speaker] Shyam Prabhakar:1 1:Computational and Systems Biology, Genome Institute of Singapore, Singapore
Mon(2)-CIS1-3 A human variation panel of genetic influences on epigenomes and transcriptomes in three immune cells [Speaker] Nicole Soranzo:1,2 [Author] BLUEPRINT Consortium 1:Human Genetics, Wellcome Trust Sanger Institute, UK, 2:Department of Hematology, University of Cambridge
Mon(2)-CIS1-4 Integrated genomic analysis of liver cancer progression [Speaker] Hiroyuki Aburatani:1 1:Research Center for Advanced Science and Technology, The University of Tokyo, Japan

ICHG2016 My Schedule

Session List

Program Overview

Speakers

Exhibitors

My List

My Schedule

My Abstracts

Mon(2)-CIS3-1 Assessing the value of genomics [Speaker] Robyn Ward:1 1:The University of Queensland, Australia
Mon(2)-CIS3-2 Implementation of Genome Information for Health Care and Drug Discovery [Speaker] Geoffrey Ginsburg:1 1:Duke University, School of Medicine; Pratt School of Engineering, USA
Mon(2)-CIS3-3 The New Era of Drug Discovery: Human Genetics, Data Science & New Modalities [Speaker] Andrew S. Plump:1 1:Chief Medical & Scientific Officer, Takeda Pharmaceutical Co., Ltd., USA
Mon(2)-CIS3-4 Making Discoveries on the 23andMe Platform [Speaker] Anne Wojcicki:1 1:23andMe., USA

Mon(2)-CIS5-1 Genomic Profiling of a T-cell Leukemia [Speaker] David A. Wheeler:1 1:Human Genome Sequencing Center/ Baylor College of Medicine, USA
Mon(2)-CIS5-2 Genetic and transcriptomic landscape of biliary tract cancer [Speaker] Tatsuhiro Shibata:1,2 1:Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo; Division of Cancer Genomics, National Cancer Center, Japan, 2:Division of Cancer Genomics, National Cancer Center
Mon(2)-CIS5-3 ASIAN CANCER GENOMICS AND ITS CLINICAL IMPLICATIONS [Speaker] Bin Tean Teh:1 1:National Cancer Centre Singapore, Singapore
Mon(2)-CIS5-4 The evolutionary history of prostate cancer from pre-malignant lesion to lethal metastasis [Speaker] David Wedge:1 1:Cancer Genome Project, Wellcome Trust Sanger Institute, UK

Mon(2)-CIS7-1 Population genetic analysis of Negrito populations in Southeast Asia [Speaker] Timothy A. Jinam:1 1:Division of Population Genetics, National Institute of Genetics, Japan
Mon(2)-CIS7-2 Ancient DNA of early modern humans [Speaker] Qiaomei Fu:1 1:Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, China
Mon(2)-CIS7-3 A Genomic Perspective on the Colonization of the Pacific [Speaker] Mark Stoneking:1 1:Max Planck Institute for Evolutionary Anthropology, Germany
Mon(2)-CIS7-4 Formation of Japonesian from viewpoint of modern human dispersal in East Eurasia [Speaker] Naruya Saitou:1,2,3 [Author] Timothy A. Jinam:1,2, Hideaki Kanzawa-Kiriyama:4, Ituro Inoue:2,5, Katsushi Tokunaga:6, Keiichi Omoto:7, Asian DNA Repository Consortium 1:Division of Population Genetics, National Institute of Genetics; Department of Genetics, SOKENDAI; Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan, 2:Department of Genetics, SOKENDAI, 3:Department of Biological Sciences, Graduate School of Science, University of Tokyo, 4:Department of Anthropology, National Museum of Nature and Science, 5:Division of Human Genetics, National Institute of Genetics, 6:Department of Human Genetics, Graduate School of Medicine, University of Tokyo, 7:Department of Anthropology, Faculty of Science, University of Tokyo

Mon(2)-CIS9-1 Prenatal Presentation of Genetic Disorders [Speaker] Louanne Hudgins:1 1:Pediatrics/Medical Genetics, Stanford University School of Medicine, USA
Mon(2)-CIS9-2 Next Generation Sequencing demands Next Generation Phenotyping [Speaker] Raoul C. Hennekam:1 1:Department of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
Mon(2)-CIS9-3 Primary microcephalies and primordial microcephalic dwarfisms [Speaker] Alain Verloes:1 1:Dept of Genetics, Robert DEBRE Univerity Hospital, Sorbonne Paris-Cité University Denis Diderot Medical School and INSERM UM1141, Paris, France
Mon(2)-CIS9-4 From dysmorphology to human biology: A lesson from the discovery of Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency [Speaker] Tomoki Kosho:1 1:Medical Genetics, Shinshu University School of Medicine, Japan

Mon(2)-CIS2-1 Highly accurate and precise single-cell sequencing facilitated by microfluidics [Speaker] Yanyi Huang:1 1:Biodynamic Optical Imaging Center, Peking University, China
Mon(2)-CIS2-2 Molecular Anatomy of the Brain by Large-Scale Single-Cell RNA-Seq [Speaker] Sten Linnarsson:1 1:Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden
Mon(2)-CIS2-3 Immunology from the “Bottom-Up” with Single-Cell Genomics [Speaker] Alex K. Shalek:1 1:IMES & Chemistry, MIT, Ragon Institute & Broad Institute, USA
Mon(2)-CIS2-4 Single Cell Genomics [Speaker] Stephen Quake:1 1:Departments of Applied Physics and Bioengineering, Stanford University and Howard Hughes Medical Institute, USA

Mon(2)-CIS4-1 Stem cell therapies in Europe: Taking the CTX human neural stem cell product to clinical trials in disabled stroke patients [Speaker] John D. Sinden:1 1:ReNeuron Limited, UK
Mon(2)-CIS4-2 Engineering the Morphogenesis of Pluripotent Stem Cells [Speaker] Todd C. McDevitt:1 1:Gladstone Institutes of Cardiovascular Diseases; Bioengineering and Therapeutics at the University of California, San Francisco, USA
Mon(2)-CIS4-3 Retinal stem cells from bench to clinic [Speaker] Petr Baranov:1 1:Schepens Eye Research Institute, Mssachusetts Eye & Ear; Department of Ophthalmology, Harvard Medical School, Boston MA, USA
Mon(2)-CIS4-4 Possible future of regenerative medicine using cell sheet engineering and iPS cell technology [Speaker] Katsuhisa Matsuura:1 1:Tokyo Women's Medical University, Japan

Mon(2)-CIS6-1 The current approach for hereditary breast cancer from the aspect of precision medicine in the U.S. [Speaker] Banu Arun:1 1:University of Texas MD Anderson Cancer Center, USA
Mon(2)-CIS6-2 Current Status and Future of Hereditary Breast Cancer in Asia [Speaker] Ava Kwong:1,2,3,4 1:Division of Breast Surgery, Department of Surgery, The University of Hong Kong, Hong Kong, China, 2:The University of Hong Kong Shen Zhen Hospital, China, 3:The Hong Kong Hereditary Breast Cancer Family Registry, 4:Hong Kong Sanatorium and Hospital, Hong Kong
Mon(2)-CIS6-3 The current approach for hereditary breast cancer from the aspect of basic science [Speaker] Soo H. Teo:1,2 1:Cancer Research Malaysia; University Malaya Medical Center, Malaysia, 2:University Malaya Medical Centre
Mon(2)-CIS6-4 Updates of the Korean Hereditary Breast Cancer (KOHBRA) Study [Speaker] Sung-Won Kim:1 1:Surgery, Daerim St. Mary’s Hospital, Korea

Mon(2)-CIS8-1 Miscarriage chromosome testing: Conventional cytogenetic analysis vs. molecular [Speaker] Evica Rajcan-Separovic:1 1:Department of Pathology, University of British Columbia, Canada
Mon(2)-CIS8-2 Recurrent Pregnancy Loss: Miscarriage and Parental Chromosome Testing [Speaker] Mary D. Stephenson:1 1:Department of Obstetrics and Gynecology, University of Illinois at Chicago, USA
Mon(2)-CIS8-3 Can PGS/PGD improve live birth rate in RPL? [Speaker] Ruth B. Lathi:1 1:Department of Reproductive Rndocrinology and Infertility, Stanford University, USA
Mon(2)-CIS8-4 Candidate genes associated with recurrent pregnancy loss [Speaker] Mayumi Sugiura-Ogasawara:1,2 [Author] Tamao Kitaori:1,2, Kinue Katano:1,2, Nobuhiro Suzumori:1,2, Yasuhiko Ozaki:1,2 1:Obstetrics and Gynecology, Nagoya City University, Graduate School of Medical Sciences; Center for Recurrent Pregnancy Loss, Japan, 2:Center for Recurrent Pregnancy Loss

Mon(2)-CIS10-1 Genetic Susceptibility to some Common Bacterial Diseases of Humans [Speaker] Adrian V.S. Hill:1 [Author] Kathryn Auckland:1, Stephen Chapman:1, Kate Elliott:1, James Gilchrist:1, Alex Mentzer:1, Tara Mills:1, Vivek Naranbhai:1, Anne Ndungu:1, Tom Parks:1, Anna Rautanen:1 1:Wellcome Trust Centre for Human Genetics, Oxford University, UK
Mon(2)-CIS10-2 Immunogenetic Factors that Impact the Course of HIV infection [Speaker] Mary Carrington:1 1:Cancer and Inflammation Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, USA
Mon(2)-CIS10-3 Genetic Study of Leprosy in Chinese Population: Susceptibility and Treatment Response [Speaker] Jianjun Liu:1 [Author] Furen Zhang:2, Liu Hong:2, Astrid Irwanto:1 1:Human Genetics, Genome Institute of Singapore, Singapore, 2:Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, China
Mon(2)-CIS10-4 Genomic approaches to hepatitis B virus related diseases [Speaker] Katsushi Tokunaga:1 [Author] Hiromi Sawai:1, Nao Nishida:1,2, Hiroko Miyadera:1,2, Masaya Sugiyama:2, Masashi Mizokami:2 1:Department of Human Genetics, The University of Tokyo Graduate School of Medicine, Japan, 2:National Center for Global Health and Medicine, Research Center for Hepatitis and Immunology

O-17 Problems of genetic counseling for children that diagnosed definitively NF1 or suspected of NF1 [Speaker] Noriyasu Sakai:1 [Author] Hiroshi Kawakami:1, Kaoru Nishiwaki:1, Masaki Uchiyama:1, Tatsuro Maeda:1, Ryoji Tsuboi:1 1:Department of Dermatology, Tokyo Medical University
O-18 Genetic counseling on preimplantation/prenatal genetic diagnosis for incontinentia pigmenti [Speaker] Miki Kawai:1 [Author] Tsutomu Sato:2, Tamae Ohye:3, Hiroki Kurahashi:4 1:Division of Genetic Counceling, Department of Clinical Laboratory Medicine, Graduate School of Health Sciences, Fujita Health University, 2:Department of Ethics, Fujita Health University of Medicine, 3:Department of Clinical Hematology, Faculty of Medical Technology, Fujita Health University, 4:Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University
O-19 Prenatal genetic test for rare diseases [Speaker] Mariko Taniguchi-Ikeda:1,2 [Author] Tomoko Lee:3, Yasuhiro Takeshima:3, Hisahide Nishio:4, Shinya Tairaku:5, Keiko Tanaka:2, Ai Unzaki:1, Hiroyuki Awano:1, Ichiro Morioka:1, Hideto Yamada:5, Kazumoto Iijima:1, Tatsushi Toda:2,6 1:Kobe University, Department of Pediatrics, 2:Kobe University Hospital, Division of Genetic Counseling, 3:Hyogo Medical College, Department of Pediatrics, 4:Kobe University, Department of Epidemiology, 5:Kobe University, Department of Obstetrics and Gynecology, 6:Kobe University, Department of Neurology/Molecular Brain Science
O-20 The Client's Attitude Surrvey after Invasive or Non-Invasive prenatal testing [Speaker] Midori Fujita:1,2 [Author] Hiroaki Nakamura:1,3, Yutaka Kyukawa:4, Masahiro Sakai:5, Sachiyo Nishimoto:3, Kazuharu Tanaka:3, Yukiko Hashimoto:1, Rie Kawakita:1, Mie Tahara:1, Chika Motohisa:1, Michiko Watanabe:1, Toru Yorifuji:1 1:Departmernt of Genetic Medicine, Osaka City General Hospital, 2:Nursing Section, Osaka City General Hospital, 3:Department of Obstetrics, Osaka City General Hospital, 4:Yutaka Ultrasonography Clinic, 5:Osaka General Hospital of West Japan Railway Company
O-21 Gender differences in thinking affect the choice to pursue pregnancy by gamete donation and/or adoption [Speaker] Maki Kato:1 [Author] Haruki Nishizawa:2, Eiji Nishio:2, Tamae Ohye:3, Hiroki Kurahashi:4, Tsutomu Sato:5 1:Division of Genetic Counseling, Department of Clinical Laboratory Medicine, Graduate School of Health Sciences, Fujita Health University, Aichi, Japan, 2:Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Aichi, Japan, 3:Department of Clinical Hematology, Faculty of Medical Technology, Fujita Health University, Aichi, Japan, 4:Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan, 5:Department of Ethics, Fujita Health University School of Medicine, Aichi, Japan
O-22 Exploration of pregnancy conflict counseling in Germany - construction of a support system for couples after prenatal testing in Japan - [Speaker] Motoko Watanabe:1,3 [Author] Soichiro Ogura:2, Junko Yotsumoto:1, Kayoko Saito:3, Hironao Numabe:1 1:Graduate School of Humanities and Sciences, Ochanomizu University, 2:Faculty of Human Relations, Tokai Gakuin University, 3:Institute of Medical Genetics, Tokyo Women's Medical University

Mon(2)-O1-1 Monitoring Cancer Burden in Liquid Biopsies Utilizing Two Assays; Amplicon Sequencing and Global Methylation Patterns to Characterize cfDNA [Speaker] Matthew Hymes:1 [Author] Cassie Schumacher:1 1:Swift Biosciences, USA
Mon(2)-O1-2 Evaluation of prediction models for Lynch Syndrome: Updating the PREMM_1,2,6 model to identify PMS2 mutation carriers [Speaker] Anne Goverde:1,2 [Author] Manon C.W. Spaander:2, Daan Nieboer:3, Ans M.W. van den Ouweland:1, Winand N.M. Dinjens:4, Hendrikus J. Dubbink:4, Carli M. Tops:5, Marco J. Bruno:2, Robert M.W. Hofstra:1, Ewout W. Steyerberg:3, Anja Wagner:1 1:Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 2:Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 3:Department of Public Health, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 4:Department of Pathology, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 5:Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
Mon(2)-O1-3 Rapid and comprehensive routine diagnostic approach for prognostic genetic markers in multiple myeloma [Speaker] Jacqueline Schoumans:1 [Author] Sandrine Bougeon:1, Elodie David:1, Laurence Etter:1, Noemie Gesson:1, Dominique Muehlematter:1 1:Medical Genetics, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland
Mon(2)-O1-4 Clinical Validity and Actionability of Multigene NGS-Based Tests for Hereditary Cancers in a Large Multi-Center Study [Speaker] Stephen E Lincoln:1 [Author] Andrea J Desmond:2, Allison E Kurian:3, Shan Yang:1, Yuya Kobayashi:1, Aaron Solomon:1, Swaroop Aradadhya:1, James M Ford:2, Leif W Ellisen:3 1:Invitae, USA, 2:Massachusetts General Hospital, Boston, Massachusetts, USA, 3:Stanford University Medical Center, Palo Alto, California, USA
Mon(2)-O1-5 The Mitochondrial Mutational Landscape of Human Cancer and its Impact on Cancer Progression [Speaker] Sneha Grandhi:1 [Author] Colleen M Bosworth:1, Wesley J Maddox:1, Thomas LaFramboise:1 1:Genetics and Genome Sciences, Case Western Reserve University, USA
Mon(2)-O1-6 Withdrawn

Mon(2)-O2-1 Genomics and personalized medicine in primary care: a professional engagement study using theory-informed approaches [Speaker] Brenda J Wilson:1 [Author] Christina A Catley:2, Julian Little:1, Stuart G Nicholls:1, June C Carroll:3, Holly Etchegary:4, Monica Taljaard:5, CIHR Emerging Team in Genomics in Screening 1:School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Canada, 2:Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada, 3:Department of Family & Community Medicine, Mount Sinai Hospital, University of Toronto, Canada, 4:Craig L Dobbin Centre for Genetics, Memorial University, NL, Canada, 5:Centre for Practice Changing Research, Ottawa Hospital Research Institute, Ottawa, On Canada
Mon(2)-O2-2 Supporting the workforce to deliver the 100,000 Genomes Project: the work of Health Education England’s Genomics Education Programme [Speaker] Michelle Bishop:1 [Author] Anneke Seller:1, Sue Hill:2, Val Davison:1, Genomics Education Programme 1:Genomics Education Programme, Health Education England, UK, 2:Chief Scientific Officer, NHS England
Mon(2)-O2-3 Human Genetics: Medical and Societal Implications. A high school course on a medical school campus [Speaker] Maurice Godfrey:1 [Author] Jaynie E Bird:2 1:Munroe Meyer Institute, University of Nebraska Medical Center, USA, 2:Omaha Public Schools and University of Nebraska Medical Center
Mon(2)-O2-4 Impact of educational messages for parents about newborn screening: a randomized factorial survey [Speaker] Beth K Potter:1 [Author] Brenda J Wilson:1, June C Carroll:2, Julian Little:1, David Castle:3, Pranesh Chakraborty:4, Samantha Craigie:5, Holly Etchegary:6, Louise Lemyre:1, Fiona A Miller:2, George A Wells:1, Jennifer Milburn:4, Keith Miller:1, Laure Tessier:1, Ruth R White:7, George Tawagi:8, Mark Walker:7, CIHR Emerging Team in Genomics in Screening 1:University of Ottawa, Canada, 2:University of Toronto, 3:University of Victoria, 4:Children's Hospital of Eastern Ontario, 5:McMaster University, 6:Memorial University, 7:Ottawa Hospital Research Institute, 8:The Ottawa Hospital
Mon(2)-O2-5 A psycho-educational intervention for people with a family history of depression for use in general practice. Results from pilot testing [Speaker] Kristine K Barlow-Stewart:1 [Author] Bettina Meiser:2, Michelle Peate:2, Charlene Levitan:2, Peter Schofield:3,4, Lyndal Trevena:5, Timothy Dobbins:5, Helen Christensen:6, Kerry Sherman:7, Kate Dunlop:8, Philip Mitchell:9 1:Sydney Medical School Northern, University of Sydney, Australia, 2:Psychosocial Research Group, Prince of Wales Clinical School, UNSW, Sydney, 3:Neuroscience Research Australia, Sydney, 4:School of Medical Sciences, UNSW, Sydney, 5:Sydney School of Public Health, University of Sydney, Sydney, 6:Black Dog Institute, Sydney, 7:Centre for Emotional Health, Department of Psychology, Macquarie University, Sydney, 8:Centre for Genetics Education, NSW Health, Royal North Shore Hospital, St Leonards, Sydney, 9:School of Psychiatry, UNSW, Sydney
Mon(2)-O2-6 Exploring Australian public knowledge and understanding of DNA, genes and genetic testing in the era of personal genomics [Speaker] Bronwyn N Terrill:1 [Author] Jacqueline Savard:4, Chriselle Hickerton:2,3, Erin Turbitt:2,3, Ainsley J Newson:4, Clara L Gaff:5, Kathleen Gray:2, Anna Middleton:6, Brenda J Wilson:7, Sylvia A Metcalfe:2,3 1:Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia, 2:The University of Melbourne, 3:Murdoch Childrens Research Institute, 4:The University of Sydney, 5:The Walter and Eliza Hall Institute of Medical Research, 6:Wellcome Trust Sanger Institute, 7:University of Ottawa

Mon(2)-O3-1 Noninvasive Prenatal Testing and its Relevance to Clinical Practice: Update on Clinical Outcome Metrics on Over 85,000 Cases [Speaker] Sucheta Bhatt:1 [Author] Patricia A. Taneja:1, Holly Snyder:1, Eileen de Feo:1, Kristina M. Kruglyak:1, Meredith Halks-Miller:1, Kirsten J. Curnow:1 1:Illumina, Redwood City, CA, USA
Mon(2)-O3-2 Non-invasive prenatal diagnosis for single gene disorders [Speaker] Lingqian Wu:1,2 [Author] Weigang Lv:2, Desheng Liang:1,2, Yang Gao:3 1:State Key Laboratory of Medical Genetics, Central South University, China, 2:Hunan Jiahui Genetics Hospital, Changsha, China, 3:Berry Genomics, Beijing, China
Mon(2)-O3-3 Indication and detective rate of amniocentesis changed by the adoption of non-invasive prenatal genetic testing [Speaker] Rie Oi:1,2 [Author] Takahiro Yamashita:1, Yoshiharu Takeda:1, Setsuko Nakayama:3, Miki Hatakeyama:3, Takako Maruyama:3, Hideki Sakamoto:1, Tomoko Adachi:1, Takashi Okai:1, Toshiro Kubota:2, Masao Nakabayashi:1 1:Obstetrics, Aiiku Hospital, Japan, 2:Graduate School of Tokyo Medical and Dental University, 3:Obstetrics, Aiiku Clinic
Mon(2)-O3-4 Development and validation of a novel whole genome sequencing pipeline for non-invasive prenatal detection of fetal submicroscopic chromosome anomalies [Speaker] Desheng Liang:1,2 [Author] Lingqian Wu:1,2 1:State Key Laboratory of Medical Genetics, Central South University, China, 2:Hunan Jiahui Genetics Hospital, Changsha, China
Mon(2)-O3-5 Informed Choice in Prenatal Genetic Testing: the Choice Between Non-invasive and Invasive Prenatal Testing [Speaker] Karin E.M. Diderich:1 [Author] Sanne L van der Steen:1, Iris Bakkeren:1, Maarten F.C.M. Knapen:2,3, Attie T Go:2, Aad Tibben:4, Gosia M.I. Srebniak:1, Diane Van Opstal:1, Marike G Polak:5, Sam R Riedijk:1, Robert Jan Galjaard:1 1:Clinical Genetics, Erasmus MC, Netherlands, 2:Department of Obstetrics and Prenatal Medicine, Erasmus MC, 3:Foundation Prenatal Screening Southwest Region of the Netherlands, Rotterdam, 4:Department of Clinical Genetics, Leiden University Medical Centre, Leiden, 5:Institute of Psychology, Erasmus University Rotterdam
Mon(2)-O3-6 Differences in the background factors and awareness of noninvasive prenatal testing between pregnancies achieved with assisted reproductive technology and spontaneous pregnancy in Japan [Speaker] Akimune Fukushima:1 [Author] Kayono Yamamoto:1, Yumiko Kobayashi:1, Tomoharu Tokutomi:1, Tomonobu Kanasugi:2, Fumiharu Miura:2, NIPT consortium of Japan 1:Clnical Genetics, School of Medicine, Iwate Medical University, Japan, 2:Obstetrics and Gynecology, School of Medicine, Iwate Medical University

Mon(2)-O4-1 A shared system for collating, storing, analysing and reporting clinical genomic data across ten independent organisations: a demonstration evaluation [Speaker] Clara L. Gaff:1 [Author] Natalie Thorne:1, Tim Bakker:1, David Hansen:2, Alicia Oshlack:3, Graham Taylor:4, Andrew Lonie:5, Melissa Martyn:1,3, Ivan Macciocca:1,4, Paul James:5,6, William Wilson:2, Maureen Turner:7, Information Management, Genomics & Bioinformatics and Clinical Interpretation & Reporting Advisory Groups; VLSCI & Evaluation & Development teams, Advanced Users Group and the Alliance 1:Melbourne Genomics Health Alliance, Australia, 2:Australian E-Health Research Centre, CSIRO, Australia, 3:Murdoch Childrens Research Institute, Vic, Australia, 4:Victorian Clinical Genetics Services, Vic, Australia, 5:University of Melbourne, Vic, Australia, 6:Melbourne Health, Vic, Australia, 7:BioGrid Australia
Mon(2)-O4-2 A systematic computational pipeline for mining high-confidence candidate mirSNPs in Hypertension-implicated genes [Speaker] Linda Koshy Vaidyan:1 [Author] Harikrishnan S:2, Raman Kutty V:3, Jissa V T:3, Jayakumaran A Nair:1, A Gangaprasad:1,4, G M Nair:1, P R Sudhakaran:1,5 1:Inter-University Centre for Genomics and Gene Technology, Department of Biotechnology, Kerala University, India, 2:Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, 3:Achutha Menon Centre for Health Science Studies, Sree Chitra Tirunal Institute for Medical Sciences and Technology, 4:Deparment of Botany, University of Kerala, 5:Department of Computational Biology and Bioinformatics, University of Kerala
Mon(2)-O4-3 The BioOntological Relationship Graph (BORG) Database - a Novel Concept for Prioritizing Candidates from High Throughput Genomics Studies [Speaker] Junaid Gamieldien:1 [Author] Mahjoubeh Jalali Sefid Dashti:1 1:South African National Bioinformatics Institute, University of the Western Cape, South Africa
Mon(2)-O4-4 An automatic pipeline for analyzing sequencing data in families for disease studies [Speaker] Ren-Hua Chung:1 [Author] Wei-Yun Tsai:1, Chen-Yu Kang:1, Po-Ju Yao:1, Hui-Ju Tsai:1,2,3, Chia-Hsiang Chen:4,5 1:Institute of Population Health Sciences, National Health Research Institutes, Taiwan, 2:Department of Public Health, China Medical University, Taichung, Taiwan, 3:Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA, 4:Department of Psychiatry, Chang Gung Memorial Hospital-Linkou, Gueishan, Taoyuan, Taiwan, 5:Department and Graduate Institute of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan
Mon(2)-O4-5 coalescentSTR: a statistical method that estimates repeat numbers for multiple samples from high-throughput sequencing data by considering coalescent theory [Speaker] Kaname Kojima:1 [Author] Yosuke Kawai:1, Naoki Nariai:2, Takahiro Mimori:1, Takanori Hasegawa:3, Masao Nagasaki:1 1:Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Japan, 2:Institute of Genomic Medicine, University of California, San Diego, 3:Institute of Medical Science, University of Tokyo
Mon(2)-O4-6 A Statistical Exploration of How Multiple Enhancers Affect Traits Jointly [Speaker] Yutaka Yasui:1 [Author] Evadnie Rampersaud:1, Guolian Kang:1, Jane Hankins:1, Jeremie Estepp:1, Shuoguo Wang:1, Ruopeng Feng:1, Lance Palmer:1, Zhaoming Wang:1, Hideki Yanai:2, Leslie Robison:1, Jinghui Zhang:1, Gang Wu:1, Katsushi Tokunaga:2, Mitchell J Weiss:1 1:St. Jude Children's Research Hospital, USA, 2:University of Tokyo

Mon(2)-O5-1 Heterozygous mutation of alpha 3 chain of collagen type IV (COL4A3) in a large Japanese pedigree with autosomal dominant Alport syndrome showing a typical ultrastructural change in the glomerular basement membrane (GBM) of the kidney [Speaker] Hiroyuki Morita:1 [Author] Junko Takagi:1, Sho Hirase:1, Ayano Ito:2, Hirokazu Imai:2, Koji Kimata:3, Ichiro Naito:4, Yoshifumi Ninomiya:5, Kazuo Otake:1 1:Division of Endocrinology and Metabolism, Department of Internal Medicine, Aichi Medical University School of Medicine, Japan, 2:Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 3:Advanced Medical Research, Aichi Medical University School of Medicine, 4:Department of Human Morphology, Okayama University School of Medicine, 5:Department of Molecular Biology and Biochemistry, Okayama University School of Medicine
Mon(2)-O5-2 Identification of a 21.7kb deletion of SLC25A13 gene causing untranscription of the affected allele: Definite diagnosis of an infant with citrin deficiency by using a diversity of molecular tools [Speaker] Qi-Qi Zheng:1 [Author] Zhan-Hui Zhang:2, Han-Shi Zeng:1, Wei-Xia Lin:1, Yuan-Zong Song:1 1:Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China, 2:Core Laboratory, The First Affiliated Hospital, Jinan University, Guangzhou, China
Mon(2)-O5-3 Unique biochemical alterations in patients with neonatal intrahepatic cholestasis caused by citrin deficiency: A comparison with congenital biliary atresia and idiopathic infantile cholestasis [Speaker] Wei-Xia Lin:1 [Author] Mei Deng:1, Li Guo:1, Feng-Ping Chen:2, Yuan-Zong Song:1 1:Department of Pediatrics, the First Affiliated Hospital, Jinan University, Guangzhou, China, 2:Department of Laboratory Science, the First Affiliated Hospital, Jinan University, Guangzhou, China
Mon(2)-O5-4 *The Common and Rare Variants of UGT1A1* in Neonatal Hyperbilirubinemia in Indonesian Population** [Speaker] Dewi A Wisnumurti:1 [Author] Yunia Sribudiani:2, Robert M Porsch:3, Ani M Maskoen:2, Sri E Rahayuningsih:4, Eni K Asni:5, Frank Sleutels:6, Christel Kockx:6, Wilfred van Ijcken:6, Abdurachman Sukadi:7, Tri H Achmad:2 1:Neonatology Subdivision, Departement of Pediatric, Arifin Achmad General Hospital, Pekanbaru, Indonesia, 2:Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia, 3:Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, 4:Cardiology Sub division, Department of Pediatric, Dr. Hasan Sadikin Hospital, Bandung, Indonesia, 5:Department of Biochemistry, Faculty of Medicine, Universitas Riau, Riau, Indonesia, 6:Biomics Center, Erasmus Medical Center, Rotterdam, The Netherlands, 7:Neonatology Subdivision, Departement of Pediatric, Dr. Hasan Sadikin Hospital, Bandung, Indonesia
Mon(2)-O5-5 *Molecular Diagnosis of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency by Analyzing SLC25A13* Gene and Its Transcripts in Peripheral Blood Mononuclear Cells** [Speaker] Yuan-Zong Song:1 [Author] Zhan-Hui Zhang:2, Wei-Xia Lin:1, Qi-Qi Zheng:1, Man Mao:3, Ying Cheng:1, Han-Shi Zeng:1, Shu-Tao Zhao:1, Feng-Ping Chen:3, Wang-Rong Wen:3 1:Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China, 2:Core Laboratory, The First Affiliated Hospital, Jinan University, Guangzhou, China, 3:Department of Laboratory Science, The First Affiliated Hospital, Jinan University, Guangzhou, China
Mon(2)-O5-6 GATA binding protein 2 (GATA2) mutation identified in a Japanese patient with adult-onset pulmonary alveolar proteinosis [Speaker] Ryushi Tazawa:1 [Author] Ryota Sato:2, Masayuki Ito:1, Amy P Hsu:3, Shinobu Akagawa:2, Yuko Ito:2, Jun Tohyama:1,4, Akira Hebisawa:2, Ken Ohta:2, Koh Nakata:1 1:Niigata University Medical and Dental Hospital, Japan, 2:NHO Tokyo Hospital, 3:National Institute of Allergy and Infectious Diseases, NIH, 4:NHO Nishi-Niigata Chuo Hospital

Mon(2)-O6-1 *A novel regulatory variant of FADS1* determines binding of PATZ1 and is associated with metabolic and inflammatory diseases** [Speaker] Claes Wadelius:1 [Author] Adam Ameur:1, Stefan Enroth:1, Madhusudhan Bysani:1, Helena Nord:1, Marco Cavalli:1, Magnus Essand:1, Ulf Gyllensten:1, Gang Pan:1 1:Immunology, Genetics and Pathology, Uppsala University, Sweden
Mon(2)-O6-2 A meta-analysis of genome-wide association studies for diabetic nephropathy in Japanese patients with type 2 diabetes [Speaker] Makiko Taira:1 [Author] Minako Imamura:1, Atsushi Takahashi:2,4, Yoichiro Kamatani:2, Michiaki Kubo:3, Shiro Maeda:1,5 1:Laboratory for Endocrinology, Metabolism and Kidney Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 2:Laboratory for Statistical Analysis, RIKEN, Center for Integrative Medical Sciences, Yokohama, Japan, 3:Laboratory for Genotyping Development, RIKEN, Center for Integrative Medical Sciences, Yokohama, Japan, 4:Laboratory for Omics Informatics Omics Research Center, National Cerebral And Cardiovascular Center, Osaka, Japan, 5:Department of Advanced Genomic and Laboratory Medicine, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan
Mon(2)-O6-3 HETEROZYGOUS CONNEXIN50 MUTATION LOWERS BLOOD LIPIDS AND AFFECTS TRANSCRIPTOME IN HEART AND KIDNEY IN A RAT MODEL [Speaker] Ondrej Seda:1 [Author] Lucie Sedova:1, Frantisek Liska:1, Michaela Krupkova:1, Drahomira Krenova:1, Vladimir Kren:1 1:Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague, Czech Republic
Mon(2)-O6-4 Gaining mechanistic insights at type 2 diabetes and glycemic trait association loci by integration with human pancreatic islet transcriptome and regulatory information [Speaker] Martijn van de Bunt:1,2 [Author] Robert G Legg:1, Jocelyn E Manning-Fox:3, Amy Barrett:1,2, Amanda J Bennett:1,2, Emmanouil T Dermitzakis:4,5,6, Patrick E MacDonald:3, Anna L Gloyn:1,2,7, Mark I McCarthy:1,2,7 1:Wellcome Trust Centre for Human Genetics, University of Oxford, UK, 2:Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, 3:Alberta Diabetes Institute, Li Ka Shing Centre, University of Alberta, 4:Department of Genetic Medicine and Development, University of Geneva, 5:Institute for Genetics and Genomics in Geneva, University of Geneva, 6:Swiss Institute of Bioinformatics, Geneva, 7:Oxford NIHR Biomedical Research Centre, University of Oxford
Mon(2)-O6-5 Large scale exome array meta-analyses identify numerous novel common, low-frequency, and rare coding variants associated with glycaemic traits [Speaker] Hidetoshi Kitajima:1 [Author] Meta-Analyses of Glucose and Insulin-related traits Consortium 1:Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Mon(2)-O6-6 Large-scale exome chip association analysis identifies novel type 2 diabetes susceptibility loci and highlights candidate effector genes [Speaker] Anubha Mahajan:1 [Author] on behalf of the ExT2D Exome Chip Consortium, for PROMIS, CHARGE and T2D-GENES/GoT2D 1:WTCHG, University of Oxford, UK

Mon(2)-O7-1 A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V) [Speaker] Toshitaka Kawarai:1 [Author] Ryosuke Miyamoto:1, Yukiko Kuroda:2, Masatoshi Omoto:3, Morio Ueyama:4, Nagahisa Murakami:1, Takahiro Furukawa:1, Ryosuke Oki:1, Atsuko Mori:1, Yusuke Osaki:1, Chimeglkham Banzrai:1, Hiroyuki Nodera:1, Antonio Orlacchio:5,6, Akihiro Hashiguchi:7, Yujiro Higuchi:7, Hiroshi Takashima:7, Takashi Kanda:3, Yuishin Izumi:1, Yoshitaka Nagai:4, Takao Mitsui:2, Ryuji Kaji:1 1:Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School , Japan, 2:Department of Clinical Research, Tokushima National Hospital, National Hospital Organization, Tokushima, Japan, 3:Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, 4:Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 5:Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy, 6:Dipartimento di Medicina dei Sistemi, Universita di Roma Tor Vergata, Rome, Italy, 7:Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
Mon(2)-O7-2 Genetic profile for suspected dysferlinopathy identified by targeted next generation sequencing [Speaker] Naoki Suzuki:1 [Author] Rumiko Izumi:1,2, Tetsuya Niihori:2, Toshiaki Takahashi:3, Maki Tateyama:4, Chigusa Watanabe:5, Kazuma Sugie:6, Hirotaka Nakanishi:7, Gen Sobue:8, Masaaki Kato:1, Hiroshi Warita:1, Yoko Aoki:2, Masashi Aoki:1 1:Neurology, Tohoku University, Japan, 2:Medical Genetics, Tohoku University, 3:Department of Neurology, National Hospital Organization Sendai-Nishitaga National Hospital, 4:Departments of Neurology, Iwate National Hospital, 5:Department of Neurology, Hiroshima-Nishi medical center, 6:Department of Neurology, Nara medical university, 7:Department of Neurology, Nagoya University Graduate School of Medicine, 8:Research Division for Neurodegeneration and Dementia, Nagoya University Graduate School of Medicine
Mon(2)-O7-3 Plastin 3, a human protective modifier is highly upregulated in iPSC-derived motoneurons in asymptomatic SMN1-deteted individuals and rescues spinal muscular atrophy in mice [Speaker] Brunhilde Wirth:1 [Author] Miriam Peters:1, Ludwig Heesen:1,2, Seyyed Mohsen Hosseini Barkooie:1, Mihael Peitz:2,3, Anna Kaczmarek:1, Eva Janzen:1, Laura Torres Benito:1, Oliver Brüstle:2,3 1:Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, 2:Institute of Reconstructive Neurobiology, LIFE & BRAIN Center, University of Bonn and Hertie Foundation, Bonn, Germany, 3:DZNE, German Center for Neurodegenerative Diseases, Bonn, Germany
Mon(2)-O7-4 Evaluating biomarkers and natural history of Fukuyama Congenital Muscular Dystrophy [Speaker] Mariko Taniguchi-Ikeda:1,2 [Author] Risa Harada:3, Ai Unzaki:1, Tatsuya Nishii:4, Hiroyuki Awano:1, Lee Tomoko:5, Yasuhiro Takeshima:5, Kazuhiro Kobayashi:2, Ichiro Morioka:1, Kazumoto Iijima:1, Tatsushi Toda:2 1:Department of Pediatrics, Kobe University Graduate School of Medicine, Japan, 2:Department of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, 3:Department of Rehabilitation,Kobe University Graduate School of Medicine, 4:Department of Radiology,Kobe University Graduate School of Medicine, 5:Department of Pediatrics, Hyogo Medical College
Mon(2)-O7-5 *Mutation in hnRNPA1* causes isolated inclusion body myopathy in two families with multisystem proteinopathy** [Speaker] Rumiko Izumi:1,2 [Author] Hitoshi Warita:1, Tetsuya Niihori:2, Toshiaki Takahashi:3, Maki Tateyama:1, Naoki Suzuki:1, Ayumi Nishiyama:1,2, Matsuyuki Shirota:4, Ryo Funayama:5, Keiko Nakayama:5, Satomi Mitsuhashi:6, Ichizo Nishino:6, Yoko Aoki:2, Masashi Aoki:1 1:the Department of Neurology, Tohoku University Graduate School of Medicine, Japan, 2:the Departments of Medical Genetics, Tohoku University Graduate School of Medicine, 3:the Department of Neurology, National Hospital Organization Sendai-Nishitaga National Hospital, 4:the Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 5:the Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 6:Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) and Department of Genome Medicine Development, Medical Genome Center, NCNP
Mon(2)-O7-6 *Biophysical characteristics of GJB1* mutations and the correlation with clinical phenotypes of Charcot-Marie-Tooth disease type X1** [Speaker] Yo-Tsen Liu:1,2 [Author] Pei-Chien Tsai:1,2,3, De-Ming Yang:4,5, Tai-Yu Chiu:4,5, Yu-Ping Su:6, Yi-Chu Liao:1,2, Bing-Wen Soong:1,2,3, Kon-Ping Lin:1,2, Yi-Chung Lee:1,2,3 1:Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, 2:Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, 3:Brain Research Center, National Yang-Ming University, Taipei, Taiwan, 4:Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei, Taiwan, 5:Biophotonics Interdisciplinary Research Center, National Yang-Ming University, Taipei, Taiwan, 6:Department of Psychiatry, Cathay General Hospital, Taipei, Taiwan

Mon(2)-O8-1 *A mitochondrial tRNA modopathy due to QRSL1* mutations causes infantile mitochondrial disease** [Speaker] Nana Akiyama:1 [Author] Kei Murayama:2, Masaru Shimura:2, Takuya Fushimi:2, Keiko Ichimoto:2, Masato Mori:3, Yoshihito Kishita:4, Yoshimi Tokuzawa:4, Masakazu Kohda:4, Tsutomu Suzuki:5, Yasushi Okazaki:3, Akira Ohtake:6 1:Clinical Genetics, Chiba Childrens Hospital, Japan, 2:Department of Metabolism, Chiba Childrens Hospital, 3:Department of Pediatrics, Matsudo City Hospital, 4:Research Center for Genomic Medicine, Saitama Medical University, 5:Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 6:Department of Pediatrics, Saitama Medical University
Mon(2)-O8-2 CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria [Speaker] Elsebet Ostergaard:1 [Author] Carol Saunders:2,3, Laurie Smith:3,4, Flemming Wibrand:1, Kirstine Ravn:1, Peter Bross:5, Isabelle Thiffault:3, Mette Christensen:1, Andrea Atherton:4, Emily Farrow:3,4, Neil Miller:3, Stephen F Kingsmore:2,3,4 1:Clinical Genetics, Copenhagen University Hospital, Denmark, 2:Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA, 3:Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA, 4:Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA, 5:Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark
Mon(2)-O8-3 A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies [Speaker] Masakazu Kohda:1 [Author] Yoshimi Tokuzawa:1, Kishita Yoshihito:1, Yohsuke Moriyama:1,2, Yosuke Mizuno:1, Tomoko Hirata:1, Yukiko Yatsuka:1, Yzumi Yamashita:1, Yutaka Nakachiy:1, Hidemasa Kato:1, Shunsuke Tamaru:3, Hiromi Nyuzuki:1, Nurun Nahar Borna:1, Hiroko Harashima:4, Taro Yamazaki:4, Masato Mori:5, Kei Murayama:6, Akira Ohtake:4, Yasushi Okazaki:1 1:Research Center for Genomic Medicine, Saitama Medical University, Japan, 2:Department of Anatomy II and Cell Biology, Fujita Health University School of Medicine, 3:Department of Obstetrics and Gynecology, Saitama Medical University, 4:Department of Pediatrics, Saitama Medical University, 5:Department of Pediatrics, Matsudo City Hospital, 6:Department of Metabolism, Chiba Children's Hospital
Mon(2)-O8-4 Clinical, Molecular basis and Genetics of Hepatocerebral Mitochondrial DNA Depletion Syndrome in Japan [Speaker] Masaru Shimura:1 [Author] Kei Murayama:1, Takuya Fushimi:1, Makiko Tajika:1, Keiko Ichimoto:1, Masato Mori:2, Yoshihito Kishita:3, Yoshimi Tokuzawa:3, Masakazu Kohda:3, Yasushi Okazaki:3, Akira Ohtake:4 1:Department of Metabolism, Chiba Children's Hospital, Japan, 2:Department of Pediatrics, Matsudo City Hospital, 3:Research Center for Genomic Medicine, Saitama Medical University, 4:Department of Pediatrics, Saitama Medical University
Mon(2)-O8-5 Modulation of Mitochondrial Bioenergetics in Fibroblasts Derived From Patients With A3243G Mitochondrial DNA Mutation [Speaker] Dar-Shong Lin:1,2 [Author] Che-Sheng Ho:2, Hsuan-Liang Liu:3, Ming-Fu Chiang:4 1:Pediatric Genetics, Mackay Memorial Hospital, Taipei, Taiwan, 2:Pediatric Neurology, Mackay Memorial Hospital, Taipei, Taiwan, 3:Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, Taiwan, 4:Neurosurgery, Mackay Memorial Hospital, Taipei, Taiwan
Mon(2)-O8-6 Whole exome analysis of mitochondrial respiratory chain disorders: Prenatal genetic diagnosis [Speaker] Taro Yamazaki:1 [Author] Hiroko Harashima:1, Yuichi Abe:1, Midori Taniguchi:2, Takuya Fushimi:2, Keiko Ichimoto:2, Yukiko Yatsuka:3, Yoshihito Kishita:3, Yoshimi Tokuzawa:3, Tomoko Hirata:4, Masakazu Kohda:4, Yasushi Okazaki:3,4, Kei Murayama:2, Akira Ohtake:1 1:Pediatrics, Saitama Medical University, Japan, 2:Metabolism, Chiba Children's Hospital, 3:Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, 4:Translational Research, Research Center for Genomic Medicine, Saitama Medical University

Mon(2)-O9-1 Target genes of transcriptional regulation by Dentatorubral-Pallidoluysian Atrophy protein (DRPLAp) that acts as a transcriptional co-regulator [Speaker] Keiko Hatano:1 [Author] Hidetoshi Date:1, Hiroyuki Ishiura:1, Jun Mitsui:1, Jun Goto:1,3, Jun Yoshimura:2, Koichiro Doi:2, Shinichi Morishita:2, Shoji Tsuji:1 1:Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo , Japan, 2:Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, 3:Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo
Mon(2)-O9-2 Sigmar1 receptor: Genetics, clinical/subclinical investigations and animal and cell models characterisation to dissect the mechanisms of cell death leading to motor neuron disease [Speaker] Hamid Azzedine:1 1:Institute of Neuropathology , Germany
Mon(2)-O9-3 Identification of Long non-coding RNA as a Novel Susceptibility Gene for Non-Familial Hypokalemic Periodic Paralysis by GWAS [Speaker] I-Wen Song:1 [Author] Chih-Chien Sung:2, Chien-Hsiun Chen:1, Chih-Jen Cheng:2, Sung-Sen Yang:2, Yi-Chun Chou:1, Jenn-Hwai Yang:1, Yuan-Tsong Chen:1, Shih-Hua Lin:2, Jer-Yuarn Wu:1 1:Institute of Biomedical Sciences, Academia Sinica, Taiwan, 2:Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei,Taiwan
Mon(2)-O9-4 Features of dysferlin mutations in Japan [Speaker] Toshiaki Takahashi:1 [Author] Naoki Suzuki:2, Rumiko Izumi:2,3, Tetsuya Niihori:3, Chikako Yaginuma:4, Naoko Shimakura:2, Hiroya Ono:2, Yasuko Shimosegawa:5, Sayaka Taniguchi:1, Hideki Oizumi:1, Hiroyasu Tanaka:1, Masaru Yoshioka:1,4, Atsushi Takeda:1, Yoko Aoki:3, Masashi Aoki:1 1:Department of Neurology and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga National Hospital, Japan, 2:Department of Neurology, Tohoku University School of Medicine, 3:Department of Medical Genetics, Tohoku University School of Medicine, 4:Departments of Clinical Laboratory and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga National Hospital, 5:Departments of Neurosurgery and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga National Hospital
Mon(2)-O9-5 *Mutations in CAPN1* Cause Autosomal Recessive Hereditary Spastic Paraplegia** [Speaker] Ziv Gan-Or:1 [Author] Naima Bouslam:2, Nazha Birouk:2, Alexandra Lissouba:3, Daniel Chambers:4, Julie Veriepe:3, Alaura Androschuck:4, Ahmed Bouhouche:2, Ali Benomar:2, Mohamed Yahyaoui:2, Reda Ouazzani:2, Grace Yoon:5, Nicolas Dupre:6, Oksana Suchowersky:7, Francois Bolduc:4, J Alex Parker:3, Patrick A Dion:1, Pierre Drapeau:3, Guy A Rouleau:1, Bouchra O Bencheikh:1 1:McGill University, Canada, 2:Centre Hospitalier Ibn Sina, University; Mohammed V Souissi, Rabat, Morocco, 3:Centre de Recherche du Centre Hospitalier de l'Universite; de Montreal (CRCHUM), Montreal, Quebec, Canada, 4:Department of Pediatrics, Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada, 5:Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada, 6:Division of Neurology, CHU de Quebec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada, 7:Division of Neurology, University of Alberta, Edmonton, Alberta, Canada
Mon(2)-O9-6 Exome sequencing of singletons from individual families revealed a novel causative gene for autosomal recessive hereditary spastic paraplegia [Speaker] Hiroyuki Ishiura:1 [Author] Jun Mitsui:1, Haruo Shimazaki:2, Kishin Koh:3, Yuta Ichinose:3, Yuji Takahashi:4, Jun Goto:5, Jun Yoshimura:6, Koichiro Doi:6, Shinichi Morishita:6, Hidenao Sasaki:7, Yoshihisa Takiyama:3, Shoji Tsuji:1, JASPAC (Japan Spastic Paraplegia Research Consortium) 1:Department of Neurology, The University of Tokyo, Japan, 2:Department of Neurology, Jichi Medical University, 3:Department of Neurology, Yamanashi University, 4:Department of Neurology, National Center of Neurology and Psychiatry, 5:Department of Neurology, International University of Health and Welfare Mita Hospital, 6:Department of Computational Science, Graduate School of Frontier Sciences, The University of Tokyo, 7:Department of Neurology, Hokkaido University

Mon(2)-O10-1 *Fast and effective genome editing to study dominant de novo* mutations: the Wdr45 mouse model for BPAN** [Speaker] Caroline A. Biagosch:1,2 [Author] Svenja-Viola Hensler:1,2, Dirk Janik:3, Frauke Neff:3, Lore Becker:4,5, Thomas Klopstock:4,5, Wolfgang Wurst:5,6, Thomas Meitinger:1,2, Holger Prokisch:1,2 1:Institute of Human Genetics, Technische Universitaet Muenchen, Germany, 2:Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany, 3:Institute of Pathology, Helmholtz Zentrum Muenchen, Germany, 4:Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Muenchen, Germany, 5:Institute of Experimental Genetics, German Mouse Clinic, Neuherberg, Germany, 6:Institute of Developmental Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany
Mon(2)-O10-2 *Placental phenotypes of Chst14* ^-/-fetal mice: a model for vascular manifestations in Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency** [Speaker] Takahiro Yoshizawa:1 [Author] Shuji Mizumoto:2, Jun Nakayama:3, Takuya Hirose:4, Kazushige Takehana:4, Fengming Yue:5, Nana Tsumita:6,7, Chiaki Masuda:8, Yuko Kasahara:8, Yuki Takahashi:9, Shin-ichi Takeda:7, Takashi Okada:8, Kiyoshi Matsumoto:1, Tomoki Kosho:9 1:Division of Laboratory Animal Research, Research Center for Human and Environmental Sciences, Shinshu University, Japan, 2:Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 3:Department of Molecular Pathology, Shinshu University Graduate School of Medicine, 4:Department of Veterinary Pathology, School of Veterinary Medicine, Rakuno Gakuen University, 5:Department of Histology and Embryology, Shinshu University School of Medicine, 6:Scleroprotein and Leather Research Institute, Tokyo University of Agriculture and Technology, Faculty of Agriculture, 7:Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 8:Department of Biochemistry and Molecular Biology, Nippon Medical School, 9:Department of Medical Genetics, Shinshu University School of Medicine
Mon(2)-O10-3 Critical roles of Rdh10 in craniofacial development [Speaker] Hiroshi Kurosaka:1,2 [Author] Qi Wang:1, Takashi Yamashiro:1, Trainor Paul:2 1:Osaka University Graduate School of Dentistry , Japan, 2:Stowers Institute for Medical Research
Mon(2)-O10-4 Mutations in components of the endothelin 1-endothelin receptor type A signaling pathway cause homeotic transformations of the first pharyngeal arch in humans [Speaker] Jeanne Amiel:1 [Author] Chris Gordon:1, Yukiko Kurihara:2, Nicole Weaver:3, Roseli Maria Zechi-Ceide:4, Myriam Oufadem:1, David Weaver:5, Howard Saal:3, Stanislas Lyonnet:1, Hiroki Kurihara:2 1:Institut Imagine, France, 2:University of Tokyo, 3:Cincinnati Children's Hospital Medical Center, 4:Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, 5:Indiana University School of Medicine
Mon(2)-O10-5 Cell culture model for X-linked disorder: craniofrontonasal dysplasia and severe phenotype in female [Speaker] Masanori Sugimoto:1 [Author] Hidehito Inagaki:1, Makiko Tsutsumi:1, Yoshikazu Inoue:2, Yoshihiro Taguchi:2, Hiroko Boda:3, Masafumi Miyata:3, Takayuki Okumoto:2, Tetsushi Yoshikawa:3, Hiroki Kurahashi:1 1:Division of Molecular Genetics, ICMS, Fujita Health University, Japan, 2:Department of Plastic and Reconstructive Surgery, Fujita Health University, 3:Department of Pediatrics, Fujita Health University
Mon(2)-O10-6 MicroRNA in human induced pluripotent stem cells lineage specification [Speaker] Lu Li:1 [Author] Shen Gu:2, Yick-Keung Suen:1, Hoi-Hung Cheung:1, Dan-dan Cao:1, Wai-Nok Law:1, Wai-Yee Chan:1 1:The Chinese University of Hong Kong - Chinese Academy of Sciences Guangzhou Institute of Biomedicine and Health Joint Laboratory on Stem Cell and Regenerative Medicine, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, China, 2:Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA

Mon(2)-O11-1 Finding Small Copy Number Variations (CNVs) and Regions of Homozygosity (ROH) Beneath the Surface: A Retrospective Chromosome Microarray Analysis (CMA) and Genomic-Epigenomic Integration in Disorders of Sex Development (DSD) [Speaker] Ina E Amarillo:1,5 [Author] Vishwanathan Hucthagowder:1,5, Isabelle Nievera:2, Drew Hagan:3, Jennifer Heeley:4, Washington University in St Louis DSD Team 1:Pathology and Immunology, Washington University in St Louis School of Medicine, USA, 2:University College in Washington University in St Louis, 3:Department of Developmental Biology, Washington University in St Louis School of Medicine, 4:Department of Pediatrics, Washington University in St Louis School of Medicine, 5:Cytogenomics and Molecular Pathology Lab
Mon(2)-O11-2 Assessing copy number variants involving the ACMGG secondary finding genes in a clinical pediatric population [Speaker] Jinbo Fan:1 [Author] Surabhi Mulchandani:1, Matthew Dulik:1, Jinyun Chen:1, Adam Gleason:1, Pushkala Jayaraman:1, Elaine Zackai:2, Mahdi Sarmady:1, Minjie Luo:1, Nancy Spinner:1, Laura Conlin:1 1:The Department of Pathology and Laboratory Medicine, The Childrens Hospital of Philadelphia, USA, 2:Department of Pediatrics, The Childrens Hospital of Philadelphia
Mon(2)-O11-3 Mechanistic Insight into Formation of Chromosomal Insertions [Speaker] Shen Gu:1 [Author] Przemyslaw Szafranski:1, Zeynep H.C. Akdemir:1, Bo Yuan:1, Maria A. Magrina:3, Carlos A. Bacino:1,2,6, Seema R. Lalani:1,2,6, Amy M. Breman:1,2, Janice L. Smith:1,2, Ankita Patel:1,2, Weimin Bi:1,2, Sau Wai Cheung:1,2, Claudia M.B. Carvalho:1, James R. Lupski:1,4,5,6, Pawel Stankiewicz:1,2 1:Molecular and Human Genetics, Baylor College of Medicine, USA, 2:Baylor Miraca Genetics Laboratories, Houston, TX, 3:Medical Specialties Unit From City Hall Sao Jose dos Campos, SP, Brazil, 4:Department of Pediatrics, Baylor College of Medicine, Houston, TX, 5:Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 6:Texas Children's Hospital, Houston, TX
Mon(2)-O11-4 Cytogenetic study of Ovotesticular Disorder of Sex Development (OT- DSD) among Egyptian DSD patients [Speaker] Mona K. Mekkawy:1 [Author] Inas M Mazen:1, Amal M Mohamed:1, Alaa K Kamel:1 1:Human Cytogenetics department, National Research Centre, Egypt
Mon(2)-O11-5 Contribution of genomic copy number variations in prenatal oral clefts: a multi-center cohort study [Speaker] Ye CAO:1,2 [Author] Zhihua LI:3, Jill Rosenfeld:4, Amber N. Pursley:5,6, Ankita Patel:5,6, Jin Huang:1, Huilin Wang:1,2, Xiaofang Sun:3, Tak Yeung Leung:1,2, Sau Wai Cheung:5,6, Richard Kwong Wai Choy:1,2,7 1:Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, 2:Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China, 3:Department of Obstetrics and Gynecology, Key laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 4:Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA, 5:Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 6:Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX, USA, 7:Angsana Molecular & Diagnostics Laboratory (HK) Ltd., Hong Kong
Mon(2)-O11-6 Blood SNP-array can replace bone marrow SNP-array in Myelodysplastic Syndrome (MDS) and may be used in place of Karyotype in some patients [Speaker] Sarah Moore:1 [Author] Christopher N Hahn:1,2,3, Monika M Kutyna:4, Rosalie Kenyon:5, Rachel Fraser:1, Rakccha Chhetri:4, Deepak Singhal:4, Ian Lewis:4, Peter Bardy:4, Luen B To:4, Hamish S Scott:1,3,6,7 1:Genetics and Molecular Pathology, SA Pathology, Australia, 2:Centre for Cancer Biology, SA Pathology, 3:School of Medicine, University of Adelaide, 4:Haematology Directorate, SA Pathology, 5:Australian Cancer Research Foundation Cancer Genomics Facility, 6:School of Biological Sciences, University of Adelaide, 7:School of Pharmacy and Medical Science, University of South Australia

Mon(2)-O12-1 Collapsed Methylation Quantitative Trait Loci analysis for Low Frequency and Rare variants [Speaker] Tom G Richardson:1 [Author] Hashem A Shihab:1, Gibran Hemani:1, Jie Zheng:1, Oliver Lyttleton:2, Wendy L McArdle:2, Susan M Ring:2, Santiago Rodriguez:3, Colin Campbell:4, George Davey Smith:1, Caroline L Relton:1, Nicholas J Timpson:1, Tom R Gaunt:1 1:MRC Integrative Epidemiology Unit, University of Bristol, UK, 2:Avon Longitudinal Study of Parents and Children (ALSPAC), University of Bristol, 3:Bristol Genetic Epidemiology Laboratories, University of Bristol, 4:Intelligent Systems Laboratory, University of Bristol
Mon(2)-O12-2 A statistical approach for testing cross-phenotype effects of rare variants [Speaker] Michael P Epstein:1 [Author] Kelsy A Broadaway:1, David J Cutler:1, Richard Duncan:1, Jacob Moore:2, Erin B Ware:3, Min A Jhun:3, Lawrence F Bielak:3, Wei Zhao:3, Jennifer Smith:3, Jennifer A Smith:3, Sharon Kardia:3, Debashis Ghosh:4 1:Human Genetics, Emory University , USA, 2:Evolution and Ecology, UC-Davis, 3:Epidemiology, University of Michigan, 4:Bioinformatics and Informatics, Colorado School of Public Health
Mon(2)-O12-3 Pitfalls in the development of statistical methods for rare variant association studies [Speaker] Suzanne M Leal:1 [Author] Gao T Wang:1 1:Molecular and Human Genetics, Baylor College of Medicine, USA
Mon(2)-O12-4 Pathway-based association tests for rare variants using hierarchical structures [Speaker] Sungkyoung Choi:1 [Author] Sungyoung Lee:1, Heungsun Hwang:2, Taesung Park:1,3 1:Interdisciplinary Program in bioinformatics, Seoul National University, Korea, South, 2:Department of Psychology, McGill University, 3:Department of Statistics Seoul National University
Mon(2)-O12-5 Increased power for detection of parent-of-origin effects via the use of haplotype estimation [Speaker] Richard A. J. Howey:1 [Author] Chrysovalanto Mamasoula:1,2, Ana Töpf:1, Ron Nudel:3, Dianne F. Newbury:3, Simon E. Fisher:4,5, Judith A. Goodship:1, Bernard D. Keavney:1,6, Heather J. Cordell:1 1:Institute of Genetic Medicine, Newcastle University, UK, 2:Institute of Health and Society, Newcastle University, 3:Wellcome Trust Centre for Human Genetics, University of Oxford, 4:Max Planck Institute for Psycholinguistics, Nijmegen, 5:Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6:Institute of Cardiovascular Sciences, University of Manchester
Mon(2)-O12-6 FINEMAP: Ultrafast high-resolution fine-mapping using summary data from genome-wide association studies [Speaker] Christian Benner:1,2 [Author] Chris Spencer:3, Samuli Ripatti:1,2,4, Matti Pirinen:1 1:Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland, 2:Department of Public Health, University of Helsinki, Helsinki, Finland, 3:Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, 4:Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK

O-23 A retrospective cohort of Asian patients with Birt-Hogg-Dube syndrome [Speaker] Mitsuko Furuya:1 [Author] Masahiro Yao:2, Fumio Nomura:3, Yoji Nagashima:4, Yukio Nakatani:5 1:Dept. Mol. Pathol., Yokohama City Univ. Grad. Sch. Med., 2:Dept. Urol., Yokohama City Univ. Grad. Sch. Med., 3:Dept. Mol. Diagn. Chiba Univ. Grad. Sch. Med., 4:Dept. Surg. Pathol., Tokyo Women's Medical Univ., 5:Dept. Diagn. Pathol., Chiba Univ. Grad. Sch. Med.
O-24 Clinical features of colorectal cancer in proven mutation carriers of Lynch syndrome in a Japanese population [Speaker] Kohji Tanakaya:1 [Author] Nobuhiko Kanaya:1, Yasushi Mushiake:1, Tomoyoshi Kunitomo:1, Isao Yasuhara:1, Katayoshi Utsumi:1, Takashi Arata:1, Koh Katsuda:1, Hideki Aoki:1, Hitoshi Takeuchi:1, Chieko Tamura:2, Keiko Matsuda:3, Hiromi Sanai:4, Mami Nakanishi:4, Kokichi Sugano:5 1:Department of Surgery, Iwakuni Clinical Center, 2:FMC Tokyo Clinic, 3:Osaka Medical Center and Research Institute for Maternal and Child Health, 4:Yamaguchi Prefectural Grand Medical Center, 5:Tochigi Prefectural Cancer Center
O-25 Genetic counseling for familiar or hereditary breast and ovary cancer syndrome in Chiba University Hospital -From a standpoint of a genetic counselor [Speaker] Emi Utsuno:1 [Author] Takafumi Sangai:2, Kazuyuki Matsushita:1, Fumio Nomura:1 1:Clinical Genetics Chiba University Hospital, 2:Breast and Thyroid Surgery Chiba University Hospital
O-26 Communication with children and siblings before and after BRCA1/2 testing among Japanese breast cancer patients [Speaker] Mayuko Inuzuka:1 [Author] Reiko Yoshida:1, Junko Yotsumoto:1, Takashi Kuwayama:1, Terumasa Sawada:1, Sadako Akashi:1, Seigo Nakamura:1 1:Showa University, Breast Center

O-27 Local residents' attitude about cancer family and the future task found out by conducting trial genetic counseling [Speaker] Hitomi Yoshida:1 [Author] Kazuo Tamura:2,3 1:Daiyukai Health System, Genetic Counseling Room, 2:Genetic Counselor Training Program, Division of Biological and Environmental Chemistry, Master of Science, Graduate School of Science and Engineering Research, Kinki University, 3:Department of Life Science, School of Science and Engineering, Kinki University
O-28 The CiTi Japan Program introduced into undergraduate medical education [Speaker] Tomoko Hashimoto-Tamaoki:1,4 [Author] Yasuhiro Fujiwara:2, Keiichiro Suzuki:3, Chika Sato:4, Mariko Kakudo:4, Yoshiro Nakano:1, Shuji Kubo:1,4, Yoshimitsu Fukushima:5 1:Department of Genetics, Hyogo College of Medicine, 2:Department of Informatics, Hyogo College of Medicine, 3:Department of Medical Education Center, Hyogo College of Medicine, 4:Department of Clinical Genetics, Hyogo College of Medicine, 5:Department of Medical Genetics, Shinshu University School of Medicine
O-29 Genetics study seminar for all medical staffs arranged by cytogenetics laboratory -Improvement of genetics literacy in a medical center in Japan- [Speaker] Michiko Sone:1,3 [Author] Akane Kondou:2,3, Shizue Nanbara:1,3, Tomomi Iba:1,3, Kaori Mori:3, Shunichirou Izumi:4, Yoshikazu Kuroki:3, Kazuhisa Maeda:2,3 1:Laboratory of Cytogenetics of Shikoku Medical Center for Children and Adults, 2:Department of Obstetrics and Gynecology of Shikoku Medical Center for Children and Adults, 3:Clinical Genetics of Shikoku Medical Center for Children and Adults, 4:Department of Obstetrics and Gynecology of Tokai University School of Medicine
O-30 Intention Changes in the Participants of JSND Annual Meeting after the Symposium on Genetics [Speaker] Ruriko Horio:1 [Author] Junichi Taguchi:1,2 1:Center for Advanced Medical Science and Technology, Midtown Clinic Medical Corporation, 2:Genetic Testing Oversight Committee, Japan Society of Ningen Dock
O-31 Tasks of Department of Clinical Genetics and a genetic counselor for the institutional Ethical Committee [Speaker] Chika Sato:1 [Author] Hiroko Mimura:1, Tomoko Hashimoto-Tamaoki:1,2 1:Department of Clinical Genetics, Hyogo College of Medicine, 2:Department of Genetics, Hyogo College of Medicine

Mon(2)-P-94 New features of the UCSC Genome Browser - tools for research and the clinic [Speaker] Robert M Kuhn:1 [Author] Luvina Guruvadoo:1, Angie S Hinrichs:1, Maximillian Haeussler:1, Matthew L Spier:1, Jonathon Casper:1, Brian J. Raney:1, Ann S. Zweig:1, Donna Karolchik:1, W. James Kent:1 1:UC Santa Cruz Genomics Institute, University of California Santa Cruz, USA
Mon(2)-P-95 f-tree: a novel and improved automated questionnaire-based pedigree chart creation software for use in large-scale genome cohort studies [Speaker] Tomoharu Tokutomi:1 [Author] Kayono Yamamoto:1,2, Atsushi Shimizu:2, Akimune Fukushima:1,3 1:Department of Clinical Genetics, School of Medicine, Iwate Medical University, Japan, 2:Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, 3:Division of Innovation and Education, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University
Mon(2)-P-96 A computational platform for human genome analysis and interpretation in Argentina [Speaker] Patricio Yankilevich:1 [Author] Maximiliano de Sousa Serro:1, Daniel Koile:1 1:Instituto de Investigacion en Biomedicina de Buenos Aires. CONICET - Partner Institute of the Max Planck Society , Argentina
Mon(2)-P-98 PhaSTESt (v1.2), a user friendly tool for power calculations in pharmacogenomic studies with "time to event" outcomes [Speaker] Hamzah Syed:1 [Author] Andrea Jorgensen:1, Andrew P Morris:1 1:Biostatistics, University of Liverpool, UK
Mon(2)-P-99 NGS-SWIFT: A Cloud-Based Variant Analysis Framework Using Control-Accessed Sequencing Data from dbGaP/SRA [Speaker] Chunlin Xiao:1 [Author] Eugene Yaschenko:1, Stephen Sherry:1 1:NIH, USA
Mon(2)-P-100 EIGEN: A spectral approach for the integration of functional genomics annotations for both coding and noncoding sequence variants [Speaker] Iuliana Ionita-Laza:1 [Author] Kenneth McCallum:1, Bin Xu:2, Joseph Buxbaum:3 1:Biostatistics, Columbia University, USA, 2:Psychiatry, Columbia University, 3:Psychiatry and Genome Sciences, Mount Sinai School of Medicine
Mon(2)-P-101 An Evaluation of Methods for HLA Allele Imputation from SNP Genotypes [Speaker] Allan J. Motyer:1,3 [Author] Damjan Vukcevic:1,2, Stephen Leslie:1,2 1:Statistical Genetics, Murdoch Childrens Research Institute, Australia, 2:Department of Mathematics and Statistics, University of Melbourne, 3:Centre for Systems Genomics, The University of Melbourne, Australia
Mon(2)-P-102 Effect of various minor groove binding compounds on DNA-triplex containing (GAA)5 repeat: A comparative study to screen potential drug candidate for Friedrich's ataxia therapeutics [Speaker] Himanshu N Singh:1 [Author] Moganty R Rajeswari:1 1:Biochemistry, All India Institute of Medical Sciences, India
Mon(2)-P-103 Systematic analysis of mutation distribution in three dimensional protein structures identifies mutational hotspot in Mendelian disease genes [Speaker] Akihiro Fujimoto:1 [Author] Hidewaki Nakagawa:1 1:RIKEN, Japan
Mon(2)-P-104 In-silico Prediction of Causal Coronary Artery Disease Genes [Speaker] Benedikt Reiz:1,2 [Author] Ingrid Brænne:1,2, Jeanette Erdmann:1,2, Heribert Schunkert:3,4, Leducq Consortium CAD Genomics 1:Institute for Integrative and Experimental Genomics, University of Luebeck, Germany, 2:DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Luebeck/Kiel, Luebeck, 3:Deutsches Herzzentrum Muenchen, Technische Universitaet Muenchen, Muenchen, 4:DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich
Mon(2)-P-105 UnderCover: A Next Generation Sequencing Coverage Analysis tool for Whole genome, exome and custom targeted panel sequencing [Speaker] Pavlos Antoniou:1,2 [Author] Patricia Bignell:2, Joanne Mason:2, Anna Schuh:1,2 1:Nuffield Division of Clinical Laboratory Sciences, University of Oxford, UK, 2:Oxford Molecular Diagnostic Centre, Molecular Haematology, Level 4, John Radcliffe Hospital, Oxford, UK
Mon(2)-P-106 Accurate detection of mutations from RNA-seq in lung adenocarcinoma for clinical translation of precision medicine [Speaker] Zhifu Sun:1 [Author] Naresh Prodduturi:1, Aditya Bhagwate:1, Ping Yang:1, Jean-Pierre Kocher:1 1:Health Sciences Research, Mayo Clinic, USA
Mon(2)-P-107 Genomic Signal Processing algorithm for conserved and variable sequence search [Speaker] Ernesto Borrayo:1 [Author] Adriana P Mendizabal:2, Alejandro Morales:3 1:Gene Research Center, University of Tsukuba, Japan, 2:Farmacobiology Department, Universidad de Guadalajara, 3:Computer Sciences Department, Universidad de Guadalajara
Mon(2)-P-108 Towards HLA imputation network: A network of HLA genotype imputation reference from multiple populations [Speaker] Seik-Soon Khor:1 [Author] Buhm Han:2, Hyunchul Choi:3, Minae Kawashima:1,4, Hiromi Sawai:1, Kyuyoung Song:3, Naoyuki Kamatani:5, Katsushi Tokunaga:1, HLA imputation network 1:Graduate School of Medicine, Department of Human Genetics, The University of Tokyo, Japan, 2:Department of Convergence Medicine, University of Ulsan College of Medicine & Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea, 3:Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea, 4:Japan Science and Technology Agency (JST), Tokyo, Japan, 5:StaGen, Tokyo, Japan
Mon(2)-P-109 Bio-Virtuoso: A package of Docker containers for multiple source data retrieval, RDF conversion, and triplestore deployment in a simplified manner [Speaker] Hiroyuki Mishima:1 [Author] Koh-ichiro Yoshiura:1 1:Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan
Mon(2)-P-110 Comprehensive Genetic Exploration of Skeletal Dysplasia Using Targeted Exome Sequencing [Speaker] Jun-Seok Bae:1 [Author] Nayoung K.D. Kim:2, Woong-Yang Park:1, Tae-Joon Cho:3 1:Samsung Genome Institute, SungKyunKwan University, Korea, South, 2:Samsung Genome Institute, 3:Seoul National University
Mon(2)-P-111 Performance comparison of four commercial human whole-exome capture platforms [Speaker] Daichi Shigemizu:1,2 [Author] Yukihide Momozaw:3, Testuo Abe:2, Takashi Morizono:2, Keith A Boroevich:2, Sadaaki Takata:3, Kyota Ashikawa:3, Michiaki Kubo:3, Tatsuhiko Tsunoda:1,2 1:Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Japan, 2:Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, 3:Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences
Mon(2)-P-112 A Statistical Model for the Refinement and Ranking of Variant Calls [Speaker] Tony Kuo:1 [Author] Jun Sese:1, Martin Frith:1, Paul Horton:1 1:BRD, National Institute of Advance Industrial Science and Technology, AIST, Tokyo, Japan
Mon(2)-P-113 Identifying sequence differences among copy number variants from sequencing data [Speaker] Takahiro Mimori:1 [Author] Naoki Nariai:2, Kaname Kojima:1, Yukuto Sato:1, Yosuke Kawai:1, Yumi Yamguchi-Kabata:1, Masao Nagasaki:1 1:Tohoku University, Japan, 2:University of California, San Diego
Mon(2)-P-114 Next Generation Sequencing Strategies to reconstruct Ancient African Mitochondrial Genomes [Speaker] Tasneem Salie:1 [Author] Raj S Ramesar:1, Alan G Morris:1, John Parkington:1, Johannes Krause:2, Alissa Mittnik:2 1:Division of Human Genetics, University of Cape Town , South Africa, 2:University of Tubingen, Germany
Mon(2)-P-115 Comparison of the clinical sequence using two platforms of hereditary disease panels and exome sequencing [Speaker] Naoko Sato:1 [Author] Hiroyuki Ishiura:1, Jun Mitsui:1, Budrul Ahsan:1, Masaki Tanaka:1, Jun Goto:3, Shinichi Morishita:2, Shoji Tsuji:1 1:Neurology, Graduate School of Medicine, The University of Tokyo, Japan, 2:Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, 3:Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan
Mon(2)-P-116 A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations [Speaker] Fuyuki Miya:1,2 [Author] Mitsuhiro Kato:3, Tadashi Shiohama:4, Nobuhiko Okamoto:5, Shinji Saitoh:6, Mami Yamasaki:7, Daichi Shigemizu:1,2, Tetsuo Abe:2, Takashi Morizono:2, Keith A Boroevich:2, Kenjiro Kosaki:8, Yonehiro Kanemura:9,10, Tatsuhiko Tsunoda:1,2 1:Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Japan, 2:Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, 3:Department of Pediatrics, Showa University, School of Medicine, 4:Department of Pediatrics, Graduate School of Medicine, Chiba University, 5:Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, 6:Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 7:Department of Pediatric Neurosurgery, Takatsuki General Hospital, 8:Center for Medical Genetics, Keio University School of Medicine, 9:Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 10:Department of Neurosurgery, Osaka National Hospital, National Hospital Organization
Mon(2)-P-117 Happy families - the benefits and bioinformatics of using extended pedigrees for next-generation sequencing [Speaker] Nicholas B. Blackburn:1,2 [Author] Juan M. Peralta:1, Kathryn P. Burdon:2, Joanne E. Curran:1, John Blangero:1, Jac C. Charlesworth:2 1:South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, USA, 2:Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia
Mon(2)-P-118 Inferring the sequence and timing of admixture events in populations with complex admixture history using genome-wide SNP-chip data [Speaker] Irina Pugach:1 [Author] Rostislav Matveev:2, Brigitte Pakendorf:3, Mark Stoneking:1 1:Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Germany, 2:Max Planck Institute for Mathematics in the Sciences, Leipzig, Germany, 3:Laboratoire Dynamique du Langage, UMR5596, CNRS and Université Lyon Lumière 2, Lyon, France
Mon(2)-P-119 LAMPLINK: Additional functions for PLINK to detect SNP combination statistically significantly associated with a trait [Speaker] Aika Terada:1,2 [Author] Koji Tsuda:1,2, Jun Sese:2 1:The University of Tokyo, Japan, 2:National Institute of Advanced Industrial Science and Technology
Mon(2)-P-120 An integrated Chromosomal omics approach to decipher molecular mechanism of CGG repeat expansion in Fragile X syndrome [Speaker] Yuji Nakayama:1 [Author] Naohiro Sunamura:2, Kaori Adachi:1, Akiko Kashiwagi:4, Daigo Inaoka:2, Mitsuo Oshimura:3, Hiroyuki Kugoh:2,3, Eiji Nanba:1 1:Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan, 2:Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University, Yonago, Japan, 3:Chromosome Engineering Research Center, Tottori University, Yonago, Japan, 4:Division of Laboratory Animal Science, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan
Mon(2)-P-121 High Efficiency Automated DNA Extraction Methods for Degraded Old Skeletal Samples [Speaker] Seung-Bum Hong:1 [Author] Yang-Seop Kim:1, Hee-Jung Ahn:1 1:Division of DNA Analysis, Scientific Investigation Laboratory, Criminal Investigation Command, Korea, South
Mon(2)-P-122 Sparse modeling of genetic variants using summary statistics from genome-wide association studies [Speaker] Zheng Ning:1 [Author] Youngjo Lee:2, Yudi Pawitan:1, Xia Shen:1 1:Medical Epidemeology and Biostatistics, Karolinska Institutet, Sweden, 2:Seoul National University
Mon(2)-P-123 Universal system for analysis most type of mutation [Speaker] Oksana P Ryzhkova:1 [Author] Alexandr V Polyakov:1 1:Research Centre of Medical Genetics, Russia
Mon(2)-P-124 The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes [Speaker] Ayal B Gussow:1,2 [Author] Slave Petrovski:1,3, Quanli Wang:1, Andrew S Allen:2, David B Goldstein:1 1:Columbia University, USA, 2:Duke University, 3:University of Melbourne
Mon(2)-P-125 The Qatar Genome Reference: A Population-Specific Tool for Precision Medicine in the Middle East [Speaker] Juan L Rodriguez-Flores:1 [Author] Khalid A Fakhro:2,3, Michelle R Staudt:1, Monica D Ramstetter:1, Amal Robay:3, Joel A Malek:3, Ramin Badii:4, Ajayeb Al-Nabet Al-Marri:4, Charbel A Khalil:3, Alaya Al-Shakaki:3, Omar Chidiac:3, Dora Stadler:3, Mahmoud Zirie:4, Amin Jayyousi:4, Jacqueline Salit:1, Jason G Mezey:1,5, Ronald G Crystal:1 1:Department of Genetic Medicine, Weill Cornell Medical College, USA, 2:Sidra Medical and Research Center, Doha, Qatar, 3:Weill Cornell Medical College, Doha, Qatar, 4:Hamad Medical Corporation, Doha, Qatar, 5:Cornell University, Ithaca, NY
Mon(2)-P-126 CNVs assessment by whole exome sequencing in patients with multiple congenital malformations and developmental delay [Speaker] Leslie D Kulikowski:1,4 [Author] Evelin A Zanardo:1,4, Gil M Novo-Filho:1,4, Marilia M Montenegro:1,4, Alexandre T Dias:1,4, Thais V Costa:1,4, Fabricia A Madia:1,4, Amon M Nascimento:1,4, Flavia B Piazzon:1,2,4, Fabiola P Monteiro:2, Larissa S Costa:2,3, Marcia Dallamano:2, Joao P Kitajima:2, Chong A Kim:3, Fernando KoK:2 1:Pathology, University of São Paulo, Brazil, 2:Mendelics Genomic Analysis, Sao Paulo, Brazil, 3:Genetics Unity, Department of Pediatrics, Children Institute, Universidade de São Paulo, 4:Cytogenomics Laboratory – LIM 03, Universidade de Sao Paulo-HC-FMUSP, Sao Paulo , Brazil
Mon(2)-P-127 Analysis of the human subtelomeric regions to elucidate the real structure and pathogenesis of the related diseases [Speaker] Yoko Kuroki:1 [Author] Atsushi Toyoda:2, Hideki Noguchi:2, Kumiko Yanagi:1, Asao Fujiyama:2,3, Tadashi Kaname:1 1:Department of Genome Medicine, National Research Institute for Child Health and Development, Japan, 2:Center for Information Biology, and Advanced Genomics Center, National Institute of Genetics, 3:Principles of Informatics, National Institute of Informatics
Mon(2)-P-128 Application of High Throughput Chemical Genomics Screening Using Yeast Deletion Set for Taiwanofungus Camphoratus [Speaker] Edward Tsui:1 [Author] Samah Saharti:5, Huang Y Albert:2, Chen Daniel:4, Wang L Lilian:3, Chen C Jeremy:4 1:La Sierra University, USA, 2:Biotech KC Inc, 3:Rite Aid Corp, 4:JC Acupuncture, 5:Dept of Pathology, University of California, San Deigo
Mon(2)-P-129 PAFFT: A new homology search algorithm for third-generation sequencers [Speaker] Kazuharu Misawa:1,2 [Author] Ryo Ootsuki:3,4 1:Tohoku Medical Megabank Organization, Tohoku University, Japan, 2:Graduate School of Medicine, Tohoku University, 3:Faculty of Chemical and Biological Sciences, Japan Women's University, 4:Department of Natural Sciences, Faculty of Arts and Sciences, Komazawa University
Mon(2)-P-130 Iterative pruning method of unsupervised clustering for categorical data [Speaker] Kridsadakorn Chaichoompu:1,2 [Author] Sissades Tongsima:3, Philip J Shaw:4, Anavaj Sakuntabhai:5,6, Kristel Van Steen:1,2 1:Montefiore Institute, University of Liege, Belgium, 2:GIGA-R, University of Liege, Belgium, 3:Genome Technology Research Unit, National Center for Genetic Engineering and Biotechnology, Thailand, 4:Medical Molecular Biology Research Unit, National Center for Genetic Engineering and Biotechnology, Thailand, 5:Functional Genetics of Infectious Diseases Unit, Institut Pasteur, France, 6:Centre National de la Recherche Scientifique, France
Mon(2)-P-131 *HLA-HD, a high performance HLA* typing algorithm using next generation sequencing results to create a reliable catalog of HLA alleles** [Speaker] Shuji Kawaguchi:1 [Author] Koichiro Higasa:1, Ryo Yamada:1, Fumihiko Matsuda:1 1:Center for Genomic Medicine, Graduate School of Medicine Kyoto University, Japan
Mon(2)-P-132 Functional Analysis of Human Methyl-CpG Binding Protein 2 by RNA Silencing and Expression Profiling [Speaker] Injoo Kim:1,2,7 [Author] Shin Hae Lee:3, Jinwoo Jeong:4, Jun Hyung Park:5, Mi Ae Yoo:6, Cheol Min Kim:1,2,7 1:Supercomputing center, Pusan National University, Korea, South, 2:Research Center for Anti-Aging Technology Development, Pusan National University, 3:Department of Biological Sciences, Inha University, 4:Department of Emergency Medicine, College of Medicine, Dong-A University, 5:Codes Division, Insillicogen, Inc., 6:Department of Molecular Biology, Pusan National University, 7:Department of Medical Informatics, School of Medicine, Pusan National University
Mon(2)-P-133 MultiDCoX: Algorithm for Multivariate Differential Co-expression Analysis [Speaker] Herty Liany:1 [Author] Krishna Murthy R. Karuturi:3, Jagath C. Rajapakse:2 1:Genome Institute of Singapore, Singapore, 2:Nanyang Technological University, 3:The Jackson Laboratory, USA
Mon(2)-P-134 Network biology to identify druggable targets for Parkinson's disease [Speaker] Jhumur Pani:1 [Author] Himanshu N Singh:2 1:Cytogenetics, MTA Infotech, India, 2:School of Sciences, Noida International University
Mon(2)-P-135 Differentially Expressed Genes-At-Risk in Affected Alzheimer's Brain as Potential Biomarkers [Speaker] Vishnu Swarup:1 [Author] Himanshu N. Singh*:2, Achal K. Srivastava:1 1:Neurology, All India Institute of Medical Sciences, New Delhi, India, 2:Biochemistry, All India Institute of Medical Sciences, New Delhi, India
Mon(2)-P-136 Publically available bioinformatics resources point to novel functions and epigenetic regulation of BMP8A: a potential role in air quality-related peripheral arterial disease pathogenesis [Speaker] Cavin K Ward-Caviness:1,2 [Author] Lucas M Neas:3, Colette Blach:2, Carol S Haynes:2, Karen LaRocque-Abramson:2, Elizabeth Grass:2, Elaine Dowdy:2, Robert B Devlin:3, David Diaz-Sanchez:3, Wayne E Cascio:3, Marie Lynn Miranda:4, Simon G Gregory:2, Svati H Shah:2,5, William E Kraus:2,5, Elizabeth R Hauser:2,6,7 1:Helmholtz Institute Munich, Germany, 2:Duke Molecular Physiology Institute, Duke University Medical Center, 3:National Health and Environmental Effects Research Laboratory, US Environmental Protection Agency, 4:National Center for Geospatial Medicine, Rice University, 5:Division of Cardiovascular Medicine, Duke University Medical Center, 6:Department of Biostatistics and Bioinformatics, Duke University Medical Center, 7:Cooperative Studies Program Epidemiology Center-Durham, Veterans Affairs Medical Center
Mon(2)-P-137 Kinship-assisted variant filtering for exome sequencing analysis of extended pedigrees [Speaker] Evangelos Bellos:1 [Author] Lachlan Coin:1,2, Vanessa Sancho-Shimizu:3,4, Michael Levin:3 1:Genomics of Common Disease, Imperial College London, UK, 2:Institute for Molecular Biosciences, University of Queensland, 3:Section of Paediatrics, Faculty of Medicine, Imperial College London, 4:Section of Virology, Faculty of Medicine, Imperial College London
Mon(2)-P-138 NGS Library Prep Methods to Achieve Comprehensive Coverage for WGS and Targeted Sequencing at Low DNA Input Quantities, Including FFPE Samples [Speaker] Matthew Hymes:1 [Author] Laurie Kurihara:1 1:Swift Biosciences, USA