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Genome Medicine|July 29, 2022
X-CAP improves pathogenicity prediction of stopgain variantsRuchir Rastogi, Peter D Stenson, David N Cooper, et al.Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.Current Protocols in Bioinformatics|April 23, 2008
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanismsDavid N Cooper, Peter D Stenson, Nadia A ChuzhanovaHuman Mutation|February 20, 2004
Gross Rearrangement Breakpoint Database (GRaBD)Shaun S Abeysinghe, Peter D Stenson, Michael Krawczak, et al.Human Genetics|June 29, 2005
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic diseaseJian-Min Chen, Peter D Stenson, David N Cooper, et al.BMC Genomics|July 4, 2013
Identifying Mendelian disease genes with the variant effect scoring toolHannah Carter, Christopher Douville, Peter D Stenson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literatureJohannes Birgmeier, Cole A Deisseroth, Laura E Hayward, et al.Bioinformatics (Oxford, England)|August 10, 2006
Branch and bound computation of exact p-valuesGill BejeranoBioinformatics (Oxford, England)|January 31, 2004
Algorithms for variable length Markov chain modelingGill BejeranoPageof 46