Functional annotation of putative regulatory elements at cancer susceptibility Loci.
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ABSTRACT:
SUBMITTER: Rosse SA
PROVIDER: S-EPMC4179605 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
Functional annotation of putative regulatory elements at cancer susceptibility Loci.
Rosse Stephanie A SA Auer Paul L PL Carlson Christopher S CS
Cancer informatics 20140921 Suppl 2
Most cancer-associated genetic variants identified from genome-wide association studies (GWAS) do not obviously change protein structure, leading to the hypothesis that the associations are attributable to regulatory polymorphisms. Translating genetic associations into mechanistic insights can be facilitated by knowledge of the causal regulatory variant (or variants) responsible for the statistical signal. Experimental validation of candidate functional variants is onerous, making bioinformatic ...[more]
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