FATHMM-XF: accurate prediction of pathogenic point mutations via extended features
Author:
Affiliation:
1. Intelligent Systems Laboratory, University of Bristol, Bristol, UK
2. MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK
3. Institute of Medical Genetics, Cardiff University, Cardiff, UK
Funder
Engineering and Physical Sciences Research Council
EPSRC
Cardiff University
Publisher
Oxford University Press (OUP)
Subject
Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability
Link
http://academic.oup.com/bioinformatics/article-pdf/34/3/511/25117024/btx536.pdf
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3. ClinVar: public archive of relationships among sequence variation and human phenotype;Landrum;Nucleic Acids Res,2014
4. The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes;Liu;J. Med. Genet,2017
5. The ENSEMBL variant effect predictor;McLaren;Genome Biol,2016
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