Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

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

Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David, Gaunt, Tom R. and Campbell, Colin 2017. FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 10.1093/bioinformatics/btx536

[img]
Preview
PDF - Published Version
Available under License Creative Commons Attribution.

Download (85kB) | Preview

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. Availability and implementation: The FATHMM-XF web server is available at http://fathmm.bio compute.org.uk/fathmm-xf/, and as tracks on the Genome Tolerance Browser: http://gtb.biocom pute.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/

Item Type: Article
Date Type: Published Online
Status: In Press
Schools: Medicine
Publisher: Oxford University Press
ISSN: 1367-4803
Last Modified: 30 Nov 2017 23:13
URI: http://orca-mwe.cf.ac.uk/id/eprint/105493

Actions (repository staff only)

Edit Item Edit Item

Full Text Downloads from ORCA for this publication

Top Downloads of this item by Country

Monthly Full Text Downloads of this item

More statistics for this item...