Joint detection of copy number variations in parent-offspring trios.

ABSTRACT:

Motivation

Whole genome sequencing (WGS) of parent-offspring trios is a powerful approach for identifying disease-associated genes via detecting copy number variations (CNVs). Existing approaches, which detect CNVs for each individual in a trio independently, usually yield low-detection accuracy. Joint modeling approaches leveraging Mendelian transmission within the parent-offspring trio can be an efficient strategy to improve CNV detection accuracy.

Results

In this study, we developed TrioCNV, a novel approach for jointly detecting CNVs in parent-offspring trios from WGS data. Using negative binomial regression, we modeled the read depth signal while considering both GC content bias and mappability bias. Moreover, we incorporated the family relationship and used a hidden Ma

SUBMITTER: Liu Y 

PROVIDER: S-EPMC4907378 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature