文档介绍：Accuracy V Detection from GWAS Data
Dandan Zhang1,2, Yudong Qian2, Nirmala Akula3, Ney Alliey-Rodriguez2, Jinsong Tang4, The Bipolar
Genome Study", Elliot S. Gershon2*, Chunyu Liu2*
1 Department of Pathology, School of Medicine, Zhejiang University, Hangzhou, People’s Republic of China, 2 Department of Psychiatry and Behavioral Neuroscience, The
University of Chicago, Chicago, Illinois, United States of America, 3 Intramural Research Programs, The National Institute of Mental Health, Bethesda, Maryland, United
States of America, 4 Institute of Mental Health, The Second Xiangya Hospital, Central South University, Changsha, People’s Republic of China
Abstract
puter programs are available for detecting copy number variants (CNVs) using genome-wide SNP arrays. We
evaluated the performance of V detection software suites—Birdsuite, Partek, HelixTree, and V-Affy—in the
identification of both rare Vs. Each program’s performance was assessed in two ways. The first was its
recovery rate, ., its ability to call Vs previously identified in eight HapMap samples by paired-end sequencing of
whole-genome fosmid clones, and 51,Vs identified by parative Genome Hybridization (aCGH) followed by
validation procedures, in 90 HapMap CEU samples. The second evaluation was program performance calling rare and
Vs in the Bipolar Genome Study (BiGS) data set (1001 bipolar cases and