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

Author:
Rogers, Mark F, Shihab, Hashem A, Mort, Matthew, Cooper, David N, Gaunt, Tom R, Campbell, Colin
Source:
Bioinformatics 2018 v.34 no.3 pp. 511-513
ISSN:
1460-2059
Subject:
Internet, bioinformatics, genome, humans, point mutation, prediction
Abstract:
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.
Agid:
6249043