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

Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David, 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
Last Modified: 29 Aug 2018 20:59
URI: http://orca-mwe.cf.ac.uk/id/eprint/105493

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