A survey of copy-number variation detection tools based on high-throughput sequencing data.

A survey of copy-number variation detection tools based on high-throughput sequencing data.
Curr Protoc Hum Genet. 2012 Oct;Chapter 7:Unit7.19
Authors: Xi R, Lee S, Park PJ
Abstract
Copy-number variation (CNV) is a major class of genomic variation with potentially important functional consequences in both normal and diseased populations. Remarkable advances in development of next-generation sequencing (NGS) platforms provide an unprecedented opportunity for accurate, high-resolution characterization of CNVs. In this unit, we give an overview of available computational tools for detection of CNVs and discuss comparative advantages and disadvantages of different approaches.
PMID: 23074071 [PubMed - indexed for MEDLINE]

Source: Current Protocols in Human Genetics - November 25, 2014 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research