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

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. AVAI...

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Bibliographic Details
Published in:Bioinformatics
Main Authors: Rogers, Mark F, Shihab, Hashem A, Mort, Matthew, Cooper, David N, Gaunt, Tom R, Campbell, Colin
Format: Artigo
Language:Inglês
Published: Oxford University Press 2018
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Applications Notes
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5860356/
https://ncbi.nlm.nih.gov/pubmed/28968714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx536
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