Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Abstract
To the Editor: Recent work by Shah and colleagues1Shah N. Hou Y.-C.C. Yu H.-C. Sainger R. Caskey C.T. Venter J.C. Telenti A. Identification of misclassified ClinVar variants via disease population prevalence.Am. J. Hum. Genet. 2018; 102: 609-619Abstract Full Text Full Text PDF PubMed Scopus (73) Google Scholar demonstrated that many variants in the ClinVar database2Landrum M.J. Lee J.M. Riley G.R. Jang W. Rubinstein W.S. Church D.M. Maglott D.R....
Paper Details
Title
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Published Date
Jan 1, 2019
Volume
104
Issue
1
Pages
187 - 190
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Notes
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