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

Bioinformatics (Oxford, England) - 1 Dec 2018

Nousiainen Kari, Kanduri Kartiek, Ricaño-Ponce Isis, Wijmenga Cisca, Lahesmaa Riitta, Kumar Vinod, Lähdesmäki Harri

Abstract excerpt

Motivation: Co-localization of trait associated SNPs for 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 SNPs are generally unknown and can be either SNPs reported in GWAS studies or other proxy SNPs in their linkage disequilibrium. Hence, a comprehensive pipeline for SNP...

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Identifiers

PMID: 29878048
DOI: 10.1093/bioinformatics/bty460
PMCID: PMC6247941

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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