Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
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| Title: | Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. |
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| Authors: | McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lott MT; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dulik MC; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shen L; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA., Attimonelli M; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy., Vitale O; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy., Karaa A; Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bai R; GeneDx, Gaithersburg, Maryland, USA., Pineda-Alvarez DE; Invitae, San Francisco, California, USA., Singh LN; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Stanley CM; Variantyx, Inc, Framingham, Massachusetts, USA.; QNA Diagnostics, Cambridge, Massachusetts, USA., Wong S; Invitae, San Francisco, California, USA., Bhardwaj A; CSIR-Institute of Microbial Technology, Chandigarh, India., Merkurjev D; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA., Mao R; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.; Department of Pathology, University of Utah, Salt Lake City, Utah, USA., Sondheimer N; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Zhang S; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, Angers, France., Wallace DC; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gai X; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. |
| Source: | Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2028-2057. Date of Electronic Publication: 2020 Nov 10. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24107 |
