학술논문
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
Document Type
Article
Author
Chiang, Theodore; Liu, Xiuping; Wu, Tsung-Jung; Hu, Jianhong; Sedlazeck, Fritz J.; White, Simon; Schaid, Daniel; Andrade, Mariza de; Jarvik, Gail P.; Crosslin, David; Stanaway, Ian; Carrell, David S.; Connolly, John J.; Hakonarson, Hakon; Groopman, Emily E.; Gharavi, Ali G.; Fedotov, Alexander; Bi, Weimin; Leduc, Magalie S.; Murdock, David R.; Jiang, Yunyun; Meng, Linyan; Eng, Christine M.; Wen, Shu; Yang, Yaping; Muzny, Donna M.; Boerwinkle, Eric; Salerno, William; Venner, Eric; Gibbs, Richard A.
Source
Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p2135-2144, 10p
Subject
Language
ISSN
10983600; 15300366
Abstract
To provide a validated method to confidently identify exon-containing copy-number variants (CNVs), with a low false discovery rate (FDR), in targeted sequencing data from a clinical laboratory with particular focus on single-exon CNVs.