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Article

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.

Bioinformatics (Oxford, England) - 15 Jul 2012

Teng Mingxiang, Ichikawa Shoji, Padgett Leah R, Wang Yadong, Mort Matthew, Cooper David N, Koller Daniel L, Foroud Tatiana, Edenberg Howard J, Econs Michael J, Liu Yunlong

Abstract excerpt

MOTIVATION: One of the fundamental questions in genetics study is to identify functional DNA variants that are responsible to a disease or phenotype of interest. Results from large-scale genetics studies, such as genome-wide association studies (GWAS), and the availability of high-throughput sequencing technologies provide opportunities in identifying causal variants. Despite the technical advances, informatics...

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PMID: 22611130
DOI: 10.1093/bioinformatics/bts275
PMCID: PMC3389767

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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