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. 2011 Jul 1;27(13):1873-5.
doi: 10.1093/bioinformatics/btr264. Epub 2011 May 5.

famCNV: copy number variant association for quantitative traits in families

Hariklia Eleftherohorinou  1 , Johanna C Andersson-Assarsson, Robin G Walters, Julia S El-Sayed Moustafa, Lachlan Coin, Peter Jacobson, Lena M S Carlsson, Alexandra I F Blakemore, Philippe Froguel, Andrew J Walley, Mario Falchi
Affiliations

famCNV: copy number variant association for quantitative traits in families

Hariklia Eleftherohorinou et al. Bioinformatics. .

Abstract

A program package to enable genome-wide association of copy number variants (CNVs) with quantitative phenotypes in families of arbitrary size and complexity. Intensity signals that act as proxies for the number of copies are modeled in a variance component framework and association with traits is assessed through formal likelihood testing.

Availability and implementation: The Java package is made available at www.imperial.ac.uk/medicine/people/m.falchi/.

Contact: m.falchi@imperial.ac.uk.

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Figures

Fig. 1.
Fig. 1.
Overlap of CNVs identified by famCNV with CNV loci catalogued in the Database of Genomic Variants at different FDR levels. At an FDR of 1%, 47% of QT-associated probes lay within reported CNVs. In contrast, only 15% of non-associated probes (FDR > 80%) lay within DGV CNVs.
See this image and copyright information in PMC

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