Accurate assignment of disease liability to genetic variants using only population data | Zendy

Joseph M. Collaco | Zendy; Karen S. Raraigh | Zendy; Joshua Betz | Zendy; Melis A. Aksit | Zendy; Nenad Blau | Zendy; Jordan Brown | Zendy; Harry C. Dietz | Zendy; Gretchen MacCarrick | Zendy; Lawrence M. Nogee | Zendy; Molly B. Sheridan | Zendy; Hilary J. Ver | Zendy; Terri H. Beaty | Zendy; Thomas A. Louis | Zendy; Garry R. Cutting | Zendy

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Accurate assignment of disease liability to genetic variants using only population data

Author(s) -

Joseph M. Collaco,

Karen S. Raraigh,

Joshua Betz,

Melis A. Aksit,

Nenad Blau,

Jordan Brown,

Harry C. Dietz,

Gretchen MacCarrick,

Lawrence M. Nogee,

Molly B. Sheridan,

Hilary J. Ver,

Terri H. Beaty,

Thomas A. Louis,

Garry R. Cutting

Publication year - 2021

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2021.08.012

Subject(s) - mendelian inheritance , genetics , population , missense mutation , biology , bayesian probability , computational biology , gene , mutation , medicine , statistics , mathematics , environmental health

The growing size of public variant repositories prompted us to test the accuracy of pathogenicity prediction of DNA variants using population data alone.

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