ClinGen and ClinVar – Enabling Genomics in Precision Medicine-Reference-Cited by-同舟云学术

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

Published:2018-10-11 Issue:11 Volume:39 Page:1473-1475
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rehm Heidi L.¹²^ORCID,Berg Jonathan S.³,Plon Sharon E.⁴

Affiliation:

1. Medical and Population Genetics ProgramThe Broad Institute of MIT and Harvard Cambridge Massachusetts

2. Center for Genomic MedicineMassachusetts General Hospital Boston Massachusetts

3. Department of GeneticsUniversity of North Carolina at Chapel Hill Chapel Hill North Carolina

4. Departments of Molecular and Human Genetics and PediatricsBaylor College of Medicine Houston Texas

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23654

Reference36 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

3. Clinical Genome Resource Program (ClinGen). (2018a).Allele registry. Retrieved fromhttps://reg.clinicalgenome.org/

4. Clinical Genome Resource Program (ClinGen). (2018b).ClinGen and ClinVar partnership. Retrieved fromhttps://www.clinicalgenome.org/about/about-the-clingen-and-clinvar-partnership/

5. Clinical Genome Resource Program (ClinGen). (2018c).Gene dosage curations. Retrieved fromhttps://search.clinicalgenome.org/kb/genedosage

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