Integrative DNA copy number detection and genotyping from sequencing and array-based platforms.

ABSTRACT:

Motivation

Copy number variations (CNVs) are gains and losses of DNA segments and have been associated with disease. Many large-scale genetic association studies are performing CNV analysis using whole exome sequencing (WES) and whole genome sequencing (WGS). In many of these studies, previous single-nucleotide polymorphism (SNP)-array data are available. An integrated cross-platform analysis is expected to improve resolution and accuracy, yet there is no tool for effectively combining data from sequencing and array platforms. The detection of CNVs using sequencing data alone can also be further improved by the utilization of allele-specific reads.

Results

We propose a statistical framework, integrated CNV (iCNV) detection algorithm, which can be applied to multiple study de

SUBMITTER: Zhou Z 

PROVIDER: S-EPMC6041760 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature