famCNV: copy number variant association for quantitative traits in families

Hariklia Eleftherohorinou, 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

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

UNLABELLED: 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.

Original languageEnglish
Pages (from-to)1873-1875
Number of pages3
JournalBIOINFORMATICS
Volume27
Issue number13
Early online date5 May 2011
DOIs
Publication statusPublished - 1 Jul 2011

Keywords

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

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