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Oxford University Press (OUP), Bioinformatics, 14(28), p. 1879-1886

DOI: 10.1093/bioinformatics/bts275

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regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

Journal article published in 2012 by Mingxiang Teng, Shoji Ichikawa, Leah R. Padgett, Yadong Wang, Matthew Mort, David N. Cooper, Daniel L. Koller, Tatiana Foroud, Howard J. Edenberg ORCID, Michael J. Econs ORCID, Yunlong Liu
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 methodologies need to be developed to prioritize thousands of variants for potential causative effects.