snpEnrichR: analyzing co-localization of SNPs and their proxies in genomic regions

2018
Motivation: Co-localization of trait associated SNPsfor specific transcription-factor binding sites or regulatory regions in the genome can yield profound insight into underlying causal mechanisms. Analysis is complicated because the truly causal SNPsare generally unknown and can be either SNPsreported in GWAS studies or other proxy SNPsin their linkage disequilibrium. Hence, a comprehensive pipeline for SNPco- localization analysisthat utilizes all relevant information about both the genotyped SNPsand their proxies is needed. Results: We developed an R package snpEnrichR for SNPco- localization analysis. The software integrates different tools for random SNPgeneration and genome co- localization analysisto automatize and help users to create custom SNPco- localization analysis. We show via an example that including proxy SNPsin SNPco- localization analysisenhances the sensitivity of co-localization detection.
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