Article
An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis.
Bioinformatics (Oxford, England) - 15 Sept 2012
Coin Lachlan J M, Cao Dandan, Ren Jingjing, Zuo Xianbo, Sun Liangdan, Yang Sen, Zhang Xuejun, Cui Yong, Li Yingrui, Jin Xin, Wang Jun
Abstract excerpt
MOTIVATION: Despite the prevalence of copy number variation (CNV) in the human genome, only a handful of confirmed associations have been reported between common CNVs and complex disease. This may be partially attributed to the difficulty in accurately genotyping CNVs in large cohorts using array-based technologies. Exome sequencing is now widely being applied to case-control cohorts and presents an exciting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.