Family-Based Benchmarking of Copy Number Variation Detection Software.

The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases. Hence, a large number of algorithms have been developed for the detection of CNVs in SNP array signal intensity data. Using the European and Afr...

Full description

Bibliographic Details
Main Authors: Marcel Elie Nutsua, Annegret Fischer, Almut Nebel, Sylvia Hofmann, Stefan Schreiber, Michael Krawczak, Michael Nothnagel
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4510559?pdf=render