FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 28968714.
- Also identified by DOI 10.1093/bioinformatics/btx536 and PMC identifier 5860356.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Genomics
- Point Mutation
- Sequence Analysis, DNA
- Software