CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Talevich, Eric; Hunter Shain, A.; Botton, Thomas; C. Bastian, Boris

doi:10.1371/journal.pcbi.1004873

Public

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Published in PLoS Computational Biology • Apr 21, 2016

Authors:

Eric Talevich

A. Hunter Shain

Thomas Botton

Abstract

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this a...

Subject

Copy number analysis

Copy-number variation

Genome

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