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:	09 May 2023 15:51
URI:	https://orca.cardiff.ac.uk/id/eprint/63761

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