A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing Data.

ABSTRACT:

Goal

Whole-exome sequencing provides a more cost-effective way than whole-genome sequencing for detecting genetic variants, such as copy number variations (CNVs). Although a number of approaches have been proposed to detect CNVs from whole-genome sequencing, a direct adoption of these approaches to whole-exome sequencing will often fail because exons are separately located along a genome. Therefore, an appropriate method is needed to target the specific features of exome sequencing data.

Methods

In this paper, a novel sparse model based method is proposed to discover CNVs from multiple exome sequencing data. First, exome sequencing data are represented with a penalized matrix approximation, and technical variability and random sequencing errors are assumed to follow a genera

SUBMITTER: Duan J 

PROVIDER: S-EPMC4808620 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature