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

2017; Oxford University Press; Volume: 34; Issue: 3 Linguagem: Inglês

10.1093/bioinformatics/btx536

ISSN

1367-4811

Autores

Mark F. Rogers, Hashem A. Shihab, Matthew Mort, D.N. Cooper, Tom R. Gaunt, Colin Campbell,

Tópico(s)

RNA modifications and cancer

Resumo

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.The FATHMM-XF web server is available at http://fathmm.biocompute.org.uk/fathmm-xf/, and as tracks on the Genome Tolerance Browser: http://gtb.biocompute.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/.mark.rogers@bristol.ac.uk or c.campbell@bristol.ac.uk.Supplementary data are available at Bioinformatics online.

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