Background#R##N#Genome-wide association studies (GWAS) based on single nucleotide polymorphisms (SNPs) revolutionized our perception of the genetic regulation of complex traits and diseases. Copy number variations (CNVs) promise to shed additional light on the genetic basis of monogenic as well as complex diseases and phenotypes. Indeed, the number of detected associations between CNVs and certain phenotypes are constantly increasing. However, while several software packages support the determination of CNVs from SNP chip data, the downstream statistical inference of CNV-phenotype associations is still subject to complicated and inefficient in-house solutions, thus strongly limiting the performance of GWAS based on CNVs.
['Lukas Forer', 'Sebastian Schönherr', 'Hansi Weissensteiner', 'Florian Haider', 'Thomas Kluckner', 'Christian Gieger', 'Heinz-Erich Wichmann', 'Günther Specht', 'Florian Kronenberg', 'Anita Kloss-Brandstätter']
CONAN: copy number variation analysis software for genome-wide association studies