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Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

Shihab, Hashem A., Gough, Julian, Mort, Matthew Edwin, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Day, Ian N. M. and Gaunt, Tom R. 2014. Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Human Genomics 8 , 11. 10.1186/1479-7364-8-11

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Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: SNV; nsSNPs; Disease-causing; Disease-specific; FATHMM; HMMs; SIFT; PolyPhen; Bioinformatics.
Publisher: Henry Stuart Publications
ISSN: 1479-7364
Funders: BBSRC, MRC
Date of First Compliant Deposit: 30 March 2016
Date of Acceptance: 21 June 2014
Last Modified: 27 Oct 2022 08:55
URI: https://orca.cardiff.ac.uk/id/eprint/63761

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