Format

Send to

Choose Destination
See comment in PubMed Commons below
PLoS One. 2012;7(4):e32396. doi: 10.1371/journal.pone.0032396. Epub 2012 Apr 16.

The impact of errors in copy number variation detection algorithms on association results.

Author information

  • 1Section on Statistical Genetics, Department of Biostatistics, University of Alabama, Birmingham, Alabama, United States of America. wineinger.nathan@scrippshealth.org

Abstract

The inaccuracy of copy number variation (CNV) detection on single nucleotide polymorphism (SNP) arrays has recently been brought to attention. Such high error rates will undoubtedly have ramifications on downstream association testing. We examined this effect for a wide range of scenarios and found a noticeable decrease in power for error rates typical of CNV calling algorithms. We compared power using CNV calls to the log relative ratio and found the latter to be superior when error rates are moderate to large or when the CNV size is small. It is our recommendation that CNV researchers use intensity measurements as an alternative to CNV calls in these scenarios.

PMID:
22523537
PMCID:
PMC3327691
DOI:
10.1371/journal.pone.0032396
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Public Library of Science Icon for PubMed Central
    Loading ...
    Support Center