famCNV: copy number variant association for quantitative traits in families

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Copy Number Variations*
  • Disease / genetics
  • Family
  • Gene Frequency
  • Genome-Wide Association Study*
  • Humans
  • Phenotype
  • Quantitative Trait, Heritable*
  • Software*