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

Mark Rogers, Hashem A Shihab, Matthew Mort, David N Cooper, Tom Gaunt, Colin Campbell

Research output: Contribution to journalArticle (Academic Journal)peer-review

93 Citations (Scopus)
428 Downloads (Pure)

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.

Original languageEnglish
Article numberbtx536
Pages (from-to)511-513
Number of pages3
JournalBioinformatics
Volume34
Issue number3
Early online date5 Sep 2017
DOIs
Publication statusPublished - 1 Feb 2018

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