Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification-Reference-Cited by-同舟云学术

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Published:2021-11-15 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Thaxton Courtney¹,Good Molly E.²,DiStefano Marina T.³,Luo Xi⁴,Andersen Erica F.⁵⁶,Thorland Erik⁷,Berg Jonathan¹,Martin Christa Lese²,Rehm Heidi L.⁸^ORCID,Riggs Erin R.²^ORCID, ,

Affiliation:

1. Department of Genetics University of North Carolina at Chapel Hill Chapel Hill North Carolina USA

2. Autism & Developmental Medicine Institute, Geisinger Danville Pennsylvania USA

3. Precision Health Program Geisinger Danville Pennsylvania USA

4. Department of Pediatric/Hematology‐Oncology Baylor College of Medicine Houston Texas USA

5. Department of Pathology University of Utah Salt Lake City Utah USA

6. ARUP Laboratories Salt Lake City Utah USA

7. Genomics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

8. Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard Cambridge Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24291

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3. Diagnostic gene sequencing panels: From design to report‐a technical standard of the American College of Medical Genetics and Genomics (ACMG);Bean L.;Genetics in Medicine,2020

4. The genetic basis of mendelian phenotypes: Discoveries, challenges, and opportunities;Chong J. X.;American Journal of Human Genetics,2015

5. A brief history of human disease genetics;Claussnitzer M.;Nature,2020

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