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The positives, protocols, and perils of genome‐wide association
Author(s) -
Neale Benjamin M.,
Purcell Shaun
Publication year - 2008
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30747
Subject(s) - genome wide association study , genetic association , false positive paradox , genome , biology , computational biology , replication (statistics) , data science , computer science , genetics , single nucleotide polymorphism , gene , artificial intelligence , virology , genotype
Genome‐wide association aims to comprehensively survey genetic variation for the purposes of disease and trait mapping. We provide a brief history of the development of genetic technology necessary to realize genome‐wide association. From there we identify and review the publicly available resources for conducting such work including the molecular technologies, genomic databases, and analytic tools. Following on from the analytic tools, we highlight common analytic considerations, ranging from study design, quality control, and data cleaning to association analysis and replication. We conclude with a look toward future developments such as the analysis of copy number variation and integration of expression and epigenetic phenomenon into genome‐wide association. © 2008 Wiley‐Liss, Inc.