Understanding genetic variants of uncertain significance.
作者信息
Joynt Alyssa C M, Axford Michelle M, Chad Lauren, Costain Gregory
机构信息
Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Paediatr Child Health. 2021 Sep 13;27(1):10-11. doi: 10.1093/pch/pxab070. eCollection 2022 Mar.
Abstract
摘要
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本文引用的文献
1
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Genome Med. 2019 Nov 21;11(1):72. doi: 10.1186/s13073-019-0688-9.
2
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).《常染色体拷贝数变异解释和报告的技术标准：美国医学遗传学与基因组学学会（ACMG）与临床基因组资源（ClinGen）的联合共识推荐》
Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3
Genetic Misdiagnoses and the Potential for Health Disparities.基因误诊与健康差异的可能性。
N Engl J Med. 2016 Aug 18;375(7):655-65. doi: 10.1056/NEJMsa1507092.
4
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N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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