famCNV: copy number variant association for quantitative traits in families.

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. AVAILABILITY AND IMPLEMENTATION The Java package is made available at www.imperial.ac.uk/medicine/people/m.falchi/. CONTACT m.falchi@imperial.ac.uk.