ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation-Reference-Cited by-同舟云学术

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Published:2018-10-11 Issue:11 Volume:39 Page:1614-1622
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rivera‐Muñoz Edgar A.¹^ORCID,Milko Laura V.¹^ORCID,Harrison Steven M.²³^ORCID,Azzariti Danielle R.²³,Kurtz C. Lisa¹,Lee Kristy¹,Mester Jessica L.⁴^ORCID,Weaver Meredith A.⁵,Currey Erin⁶,Craigen William⁷,Eng Charis⁸^ORCID,Funke Birgit²⁹¹⁰,Hegde Madhuri¹¹¹²^ORCID,Hershberger Ray E.¹³,Mao Rong¹⁴¹⁵,Steiner Robert D.¹⁶¹⁷,Vincent Lisa M.⁴^ORCID,Martin Christa L.¹⁸,Plon Sharon E.⁷,Ramos Erin⁶,Rehm Heidi L.²¹⁰³^ORCID,Watson Michael⁵,Berg Jonathan S.¹^ORCID

Affiliation:

1. Department of GeneticsUniversity of North Carolina Chapel Hill North Carolina

2. Partners HealthCare Laboratory for Molecular Medicine Cambridge Massachusetts

3. Broad Institute of MIT and Harvard Cambridge Massachusetts

4. GeneDx Gaithersburg Maryland

5. American College of Medical Genetics and Genomics Bethesda Maryland

6. Division of Genomic MedicineNational Human Genome Research Institute (NHGRI)NIH Bethesda Maryland

7. Baylor College of MedicineDepartments of Molecular and Human Genetics, and Pediatrics Houston Texas

8. Genomic Medicine InstituteCleveland Clinic Cleveland Ohio

9. Veritas Genetics Danvers Massachusetts

10. Center for Genomic MedicineMassachusetts General Hospital Boston Massachusetts

11. PerkinElmerGlobal Laboratory Services Waltham Massachusetts

12. Emory UniversityDepartment of Human Genetics Atlanta Georgia

13. Divisions of Human Genetics and Cardiovascular MedicineThe Ohio State University Wexner Medical Center Columbus Ohio

14. Department of PathologyUniversity of Utah Salt Lake City Utah

15. Department of Molecular Genetics and GenomicsARUP Laboratories Salt Lake City Utah

16. Departments of Pediatrics and GeneticsUniversity of Wisconsin School of Medicine and Public Health Madison Wisconsin

17. Prevention Genetics Marshfield Wisconsin

18. Autism & Developmental Medicine Institute Geisinger Danville, PA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23645

Reference28 articles.

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

2. Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

3. Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

4. Genetics of Phenylketonuria: Then and Now

5. Recommendations for the integration of genomics into clinical practice

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