Identifying rare variants from exome scans: the GAW17 experience

BMC Proceedings

Proceedings

Elizabeth Pugh¹  Nan Laird²  Xiaofeng Zhu³  Julia Bailey⁴  Yan Sun⁵  Alun Thomas⁶  Jean W MacCluer⁷  Laura Almasy⁷  Jack Kent⁷  Rita Cantor⁸  Robert Culverhouse⁹  Nathan Pankratz^1,10  Nathan Tintle^1,11  Jeanine Houwing-Duistermaat^1,12  Brian Suarez^1,13  Anthony Hinrichs^1,13  Andrew Paterson^1,14  Warwick Daw^1,15  Saurabh Ghosh^1,16  Inke R König^1,17  Andreas Ziegler^1,17  Joan E Bailey-Wilson^1,18  Corinne D Engelman^1,19  Anita L DeStefano^2,20  Heike Bickeböller^2,21 

[1] Center for Inherited Disease Research, Johns Hopkins University, 21202, Baltimore, MD, USA;Department of Biostatistics, Harvard School of Public Health, 02115, Boston, MA, USA;Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, 44106, Cleveland, OH, USA;Department of Epidemiology, David Geffen School of Medicine, University of California, CA, 90095, Los Angeles, USA;Research Service, VA GLAHS Epilepsy Center of Excellence, Epilepsy Genetics/Genomics Laboratories, Los Angeles, CA, USA;Department of Epidemiology, Emory University, 30322, Atlanta, GA, USA;Department of Epidemiology, University of Utah, 84108, Salt Lake City, UT, USA;Department of Genetics, Texas Biomedical Research Institute, 78245, San Antonio, TX, USA;Department of Human Genetics, David Geffen School of Medicine, University of California, 90095, Los Angeles, CA, USA;Department of Internal Medicine, Washington University School of Medicine, 63110, St Louis, MO, USA;Department of Laboratory Medicine and Pathology, University of Minnesota, 55104, Minneapolis, MN, USA;Department of Math and Computer Science, Dordt College, 51250, Sioux Center, IA, USA;Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, 2300RC, Leiden, The Netherlands;Department of Psychiatry, Washington University School of Medicine, 63110, St Louis, MO, USA;Division of Biostatistics, University of Toronto, M5S 3G4, Toronto, ON, Canada;Division of Statistical Genomics, Washington University School of Medicine, 63110, St Louis, MO, USA;Human Genetics Unit, Indian Statistical Institute, 700018, Kolkata, India;Institut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany;National Human Genome Research Institute, National Institutes of Health, 21224, Baltimore, MD, USA;School of Medicine and Public Health, University of Wisconsin, 53726, Madison, WI, USA;School of Public Health, Boston University, 02118, Boston, MA, USA;University of Göttingen Medical School, 37073, Göttingen, Germany;

关键词: Rare Variant;    Presentation Group;    Genetic Epidemiology;    Family Data;    Genetic Analysis Workshop;   

DOI  :  10.1186/1753-6561-5-S9-S1

来源: Springer

【 摘 要 】

Genetic Analysis Workshop 17 (GAW17) provided a platform for evaluating existing statistical genetic methods and for developing novel methods to analyze rare variants that modulate complex traits. In this article, we present an overview of the 1000 Genomes Project exome data and simulated phenotype data that were distributed to GAW17 participants for analyses, the different issues addressed by the participants, and the process of preparation of manuscripts resulting from the discussions during the workshop.

【 授权许可】

CC BY   
© Ghosh et al; licensee BioMed Central Ltd. 2011