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Article

SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine.

Nucleic acids research - 2 Jul 2018

Dayem Ullah Abu Z, Oscanoa Jorge, Wang Jun, Nagano Ai, Lemoine Nicholas R, Chelala Claude

Abstract excerpt

Broader functional annotation of genetic variation is a valuable means for prioritising phenotypically-important variants in further disease studies and large-scale genotyping projects. We developed SNPnexus to meet this need by assessing the potential significance of known and novel SNPs on the major transcriptome, proteome, regulatory and structural variation models. Since its previous release in 2012, we have...

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PMID: 29757393
DOI: 10.1093/nar/gky399
PMCID: PMC6030955

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