 Logo of bioinfoLink to Publisher's site Bioinformatics. 2010
February 15; 26(4): 445–455. Published online 2010 January 6.
doi:  10.1093/bioinformatics/btp713 PMCID: PMC2820680
Bioinformatics challenges for genome-wide association studies
Motivation: The sequencing of the human genome has made it
possible to identify an informative set of >1 million single
nucleotide polymorphisms (SNPs) across the genome that can be
used to carry out genome-wide association studies (GWASs). The
availability of massive amounts of GWAS data has necessitated
the development of new biostatistical methods for quality
control, imputation and analysis issues including multiple
testing. This work has been successful and has enabled the
discovery of new associations that have been replicated in
multiple studies. However, it is now recognized that most SNPs
discovered via GWAS have small effects on disease susceptibility
and thus may not be suitable for improving health care through
genetic testing. One likely explanation for the