Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation-Reference-Cited by-同舟云学术

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Published:2020-11-10 Issue:12 Volume:41 Page:2028-2057
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

McCormick Elizabeth M.¹^ORCID,Lott Marie T.²^ORCID,Dulik Matthew C.³⁴,Shen Lishuang⁵^ORCID,Attimonelli Marcella⁶^ORCID,Vitale Ornella⁶,Karaa Amel⁷,Bai Renkui⁸,Pineda‐Alvarez Daniel E.⁹,Singh Larry N.²^ORCID,Stanley Christine M.¹⁰¹¹,Wong Stacey⁹,Bhardwaj Anshu¹²,Merkurjev Daria⁵,Mao Rong¹³¹⁴,Sondheimer Neal¹⁵,Zhang Shiping²¹⁶,Procaccio Vincent¹⁷^ORCID,Wallace Douglas C.²³,Gai Xiaowu⁵¹⁸^ORCID,Falk Marni J.¹³^ORCID

Affiliation:

1. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

4. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Center for Personalized Medicine, Department of Pathology and Laboratory Medicine Children's Hospital Los Angeles Los Angeles California USA

6. Department of Biosciences, Biotechnology, and Biopharmaceutics University of Bari “A. Moro” Bari Italy

7. Genetics Unit, Massachusetts General Hospital Harvard Medical School Boston Massachusetts USA

8. GeneDx Gaithersburg Maryland USA

9. Invitae San Francisco California USA

10. Variantyx, Inc Framingham Massachusetts USA

11. QNA Diagnostics Cambridge Massachusetts USA

12. CSIR‐Institute of Microbial Technology Chandigarh India

13. ARUP Institute for Clinical and Experimental Pathology ARUP Laboratories Salt Lake City Utah USA

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

15. Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada

16. Department of Biomedical and Health Informatics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

17. Department of Biochemistry and Genetics, MitoVasc Institute UMR CNRS 6015– INSERM U1083, CHU Angers Angers France

18. Keck School of Medicine University of Southern California Los Angeles California USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24107

Reference113 articles.

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

2. A method and server for predicting damaging missense mutations

3. Sequence and organization of the human mitochondrial genome

4. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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