FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David ORCID: https://orcid.org/0000-0002-8943-8484, Gaunt, Tom R. and Campbell, Colin 2018. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34 (3) , pp. 511-513. 10.1093/bioinformatics/btx536

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Abstract

Summary: We present FATHMM-XF, a method for predicting pathogenic point mutations in the human genome. Drawing on an extensive feature set, FATHMM-XF outperforms competitors on benchmark tests, particularly in non-coding regions where the majority of pathogenic mutations are likely to be found. Availability and implementation: The FATHMM-XF web server is available at http://fathmm.bio compute.org.uk/fathmm-xf/, and as tracks on the Genome Tolerance Browser: http://gtb.biocom pute.org.uk. Predictions are provided for human genome version GRCh37/hg19. The data used for this project can be downloaded from: http://fathmm.biocompute.org.uk/fathmm-xf/

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Oxford University Press (OUP): Policy B - Oxford Open Option B
ISSN:	1367-4803
Date of First Compliant Deposit:	17 October 2017
Date of Acceptance:	4 September 2017
Last Modified:	11 Jun 2023 10:45
URI:	https://orca.cardiff.ac.uk/id/eprint/105493

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