Abstract

Motivation: A challenging problem after a genome-wide association study (GWAS) is to balance the statistical evidence of genotype - phenotype correlation with a priori evidence of biological relevance. Results: We introduce a method for systematically prioritizing single nucleotide polymorphisms (SNPs) for further study after a GWAS. The method combines evidence across multiple domains including statistical evidence of genotype - phenotype correlation, known pathways in the pathologic development of disease, SNP/gene functional properties, comparative genomics, prior evidence of genetic linkage, and linkage disequilibrium. We apply this method to a GWAS of nicotine dependence, and use simulated data to test it on several commercial SNP microarrays.

Original languageEnglish
Pages (from-to)1805-1811
Number of pages7
JournalBioinformatics
Volume24
Issue number16
DOIs
StatePublished - Aug 2008

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