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Article

SNPsnap: a Web-based tool for identification and annotation of matched SNPs.

Bioinformatics (Oxford, England) - 1 Feb 2015

Pers Tune H, Timshel Pascal, Hirschhorn Joel N

Abstract excerpt

SUMMARY: An important computational step following genome-wide association studies (GWAS) is to assess whether disease or trait-associated single-nucleotide polymorphisms (SNPs) enrich for particular biological annotations. SNP-based enrichment analysis needs to account for biases such as co-localization of GWAS signals to gene-dense and high linkage disequilibrium (LD) regions, and correlations of gene size,...

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PMID: 25316677
DOI: 10.1093/bioinformatics/btu655
PMCID: PMC4308663

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