Harmonizing variant classification for return of results in the All of Us Research Program-Reference-Cited by-同舟云学术

Harmonizing variant classification for return of results in the All of Us Research Program

Published:2021-12-28 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Harrison Steven M.¹^ORCID,Austin‐Tse Christina A.²³^ORCID,Kim Serra⁴,Lebo Matthew²,Leon Annette⁴,Murdock David⁵,Radhakrishnan Aparna⁶,Shirts Brian H.⁶,Steeves Marcie²,Venner Eric⁵,Gibbs Richard A.⁵,Jarvik Gail P.⁶,Rehm Heidi L.¹³^ORCID

Affiliation:

1. Broad Institute of MIT and Harvard Cambridge Massachusetts USA

2. Laboratory for Molecular Medicine Mass General Brigham Boston Massachusetts USA

3. Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts USA

4. Color Health Burlingame California USA

5. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

6. University of Washington Medical Center Seattle Washington USA

Funder

NIH Office of the Director

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24317

Reference25 articles.

1. The “All of Us” Research Program

2. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

3. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

4. The clinical genome resource (ClinGen) familial hypercholesterolemia variant curation Expert Panel consensus guidelines for LDLR variant classification [Preprint];Chora J. R.;Genetic and Genomic Medicine,2021

5. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

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