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Article ; Online: REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.

Ioannidis, Nilah M / Rothstein, Joseph H / Pejaver, Vikas / Middha, Sumit / McDonnell, Shannon K / Baheti, Saurabh / Musolf, Anthony / Li, Qing / Holzinger, Emily / Karyadi, Danielle / Cannon-Albright, Lisa A / Teerlink, Craig C / Stanford, Janet L / Isaacs, William B / Xu, Jianfeng / Cooney, Kathleen A / Lange, Ethan M / Schleutker, Johanna / Carpten, John D /
Powell, Isaac J / Cussenot, Olivier / Cancel-Tassin, Geraldine / Giles, Graham G / MacInnis, Robert J / Maier, Christiane / Hsieh, Chih-Lin / Wiklund, Fredrik / Catalona, William J / Foulkes, William D / Mandal, Diptasri / Eeles, Rosalind A / Kote-Jarai, Zsofia / Bustamante, Carlos D / Schaid, Daniel J / Hastie, Trevor / Ostrander, Elaine A / Bailey-Wilson, Joan E / Radivojac, Predrag / Thibodeau, Stephen N / Whittemore, Alice S / Sieh, Weiva

American journal of human genetics

2016  Volume 99, Issue 4, Page(s) 877–885

Abstract: ... an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools ... for predicting the pathogenicity of rare coding variants are needed to facilitate the discovery of disease ... variants from exome sequencing studies. We developed REVEL (rare exome variant ensemble learner ...

Abstract The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the pathogenicity of rare coding variants are needed to facilitate the discovery of disease variants from exome sequencing studies. We developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP, SiPhy, phyloP, and phastCons. REVEL was trained with recently discovered pathogenic and rare neutral missense variants, excluding those previously used to train its constituent tools. When applied to two independent test sets, REVEL had the best overall performance (p < 10
MeSH term(s) Area Under Curve ; DNA Mutational Analysis ; Disease/genetics ; Exome/genetics ; Gene Frequency ; Humans ; Mutation, Missense/genetics ; ROC Curve ; Software
Language English
Publishing date 2016-09-22
Publishing country United States
Document type Journal Article
ZDB-ID 219384-x
ISSN 1537-6605 ; 0002-9297
ISSN (online) 1537-6605
ISSN 0002-9297
DOI 10.1016/j.ajhg.2016.08.016
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Zs.A 107: Show issues Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

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