CONAN: copy number variation analysis software for genome-wide association studies |
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| Authors: | Lukas Forer Sebastian Schönherr Hansi Weissensteiner Florian Haider Thomas Kluckner Christian Gieger Heinz-Erich Wichmann Günther Specht Florian Kronenberg Anita Kloss-Brandstätter |
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| Institution: | 1.Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology,Innsbruck Medical University,Innsbruck,Austria;2.Department of Database and Information Systems, Institute of Computer Science,University of Innsbruck,Innsbruck,Austria;3.Institute of Epidemiology, Helmholtz Center Munich,German Research Center for Environmental Health,Neuherberg,Germany;4.Institute of Medical Informatics, Biometry and Epidemiology, Chair of Epidemiology,Ludwig-Maximilians-Universit?t,Munich,Germany;5.Klinikum Gro?hadern,Munich,Germany |
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| Abstract: | Background 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. |
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