This article is part of the supplement: Genetic Analysis Workshop 17: Unraveling Human Exome Data
Proceedings
Identifying rare variants from exome scans: the GAW17 experience
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* Corresponding author: Saurabh Ghosh saurabh@isical.ac.in
1 Human Genetics Unit, Indian Statistical Institute, Kolkata 700018, India
2 University of Göttingen Medical School, Göttingen, 37073, Germany
3 Department of Epidemiology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095 USA; and Research Service, VA GLAHS Epilepsy Center of Excellence, Epilepsy Genetics/Genomics Laboratories, Los Angeles, CA, USA
4 National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
5 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
6 Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
7 Division of Statistical Genomics, Washington University School of Medicine, St Louis, MO 63110, USA
8 School of Public Health, Boston University, Boston, MA 02118, USA
9 School of Medicine and Public Health, University of Wisconsin, Madison, WI 53726, USA
10 Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
11 Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden 2300RC, The Netherlands
12 Institut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany
13 Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX 78245, USA
14 Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
15 Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55104, USA
16 Division of Biostatistics, University of Toronto, Toronto, ON M5S 3G4, Canada
17 Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MD 21202, USA
18 Department of Epidemiology, Emory University, Atlanta, GA 30322, USA
19 Department of Epidemiology, University of Utah, Salt Lake City, UT 84108, USA
20 Department of Math and Computer Science, Dordt College, Sioux Center, IA 51250, USA
21 Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
BMC Proceedings 2011, 5(Suppl 9):S1 doi:10.1186/1753-6561-5-S9-S1
Published: 29 November 2011Abstract
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.