The positives, protocols, and perils of genome-wide association.
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.
Neale
Benjamin M
BM
Social, Genetic, and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, London, UK. b.neale@iop.kcl.ac.uk
Purcell
Shaun
S
D001709:Biotechnology / Q000379:methods* / Q000592:standards; D020022:Genetic Predisposition to Disease; D036281:Genetic Research; D005821:Genetic Techniques; D015894:Genome, Human; D006801:Humans