Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.

The advent of high throughput sequencing methods breeds an important amount of technical challenges. Among those is the one raised by the discovery of copy-number variations (CNVs) using whole-genome sequencing data. CNVs are genomic structural variations defined as a variation in the number of copi...

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Bibliographic Details
Main Authors: Marc-André Legault, Simon Girard, Louis-Philippe Lemieux Perreault, Guy A Rouleau, Marie-Pierre Dubé
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4374778?pdf=render