Copy Number Variation Accuracy in Genome-Wide Association Studies
Author(s) -
Pinpin Lin,
Sarah M. Hartz,
Jen-Chyong Wang,
Robert F. Krueger,
Tatiana Foroud,
Howard J. Edenberg,
John I. Nürnberger,
Andrew I. Brooks,
Jay A. Tischfield,
Laura Almasy,
Bradley T. Webb,
Victor Hesselbrock,
Bernice Porjesz,
Alison Goate,
Laura J. Bierut,
John P. Rice
Publication year - 2011
Publication title -
human heredity
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.423
H-Index - 62
eISSN - 1423-0062
pISSN - 0001-5652
DOI - 10.1159/000324683
Subject(s) - copy number variation , biology , genetics , dna microarray , genome wide association study , genome , reliability (semiconductor) , computational biology , bioinformatics , single nucleotide polymorphism , gene , genotype , power (physics) , gene expression , physics , quantum mechanics
Copy number variations (CNVs) are a major source of alterations among individuals and are a potential risk factor in many diseases. Numerous diseases have been linked to deletions and duplications of these chromosomal segments. Data from genome-wide association studies and other microarrays may be used to identify CNVs by several different computer programs, but the reliability of the results has been questioned.
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