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.
Keywords:
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Correction
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