An evaluation of copy number variation detection tools from whole-exome sequencing data.

doi:10.1002/humu.22537

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Article

An evaluation of copy number variation detection tools from whole-exome sequencing data.

Human mutation - 1 Jul 2014

Tan Renjie, Wang Yadong, Kleinstein Sarah E, Liu Yongzhuang, Zhu Xiaolin, Guo Hongzhe, Jiang Qinghua, Allen Andrew S, Zhu Mingfu

Abstract excerpt

Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing (WGS) and whole-exome sequencing (WES), has become a primary strategy for studying the genetic basis of human disease. Several CNV calling tools have recently been developed on the basis of WES data. However, the comparative performance of these tools...

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PMID: 24599517
DOI: 10.1002/humu.22537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.