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Variants of Uncertain Significance and "Missing Pathogenicity".

作者信息

Fatkin Diane, Johnson Renee

机构信息

Molecular Cardiology Division Victor Chang Cardiac Research Institute Darlinghurst Australia.

Cardiology Department St. Vincent's Hospital Darlinghurst Australia.

出版信息

J Am Heart Assoc. 2020 Feb 4;9(3):e015588. doi: 10.1161/JAHA.119.015588. Epub 2020 Feb 3.

DOI:10.1161/JAHA.119.015588
PMID:32009523
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7033868/
Abstract
摘要

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本文引用的文献

1
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.致病性和不确定性遗传变异在不同生物库参与者中有临床心脏相关性。
J Am Heart Assoc. 2020 Feb 4;9(3):e013808. doi: 10.1161/JAHA.119.013808. Epub 2020 Feb 3.
2
Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review.精准医疗在扩张型心肌病管理中的应用：美国心脏病学会的最新综述。
J Am Coll Cardiol. 2019 Dec 10;74(23):2921-2938. doi: 10.1016/j.jacc.2019.10.011.
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Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.基于基因组优先的策略评估与截断性肌联蛋白变异相关的心脏病。
Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20.
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ClinVar at five years: Delivering on the promise.ClinVar 五年：兑现承诺。
Hum Mutat. 2018 Nov;39(11):1623-1630. doi: 10.1002/humu.23641.
5
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.临床基因组测序知情同意书中 VUS 报告、变异重新解读和再联系政策分析。
Eur J Hum Genet. 2018 Dec;26(12):1743-1751. doi: 10.1038/s41431-018-0239-7. Epub 2018 Aug 24.
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Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.基因组测序解读：在被证明有害之前，变异应被视为不确定。
Genet Med. 2018 Mar;20(3):291-293. doi: 10.1038/gim.2017.269. Epub 2018 Feb 1.
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Points to consider for laboratories reporting results from diagnostic genomic sequencing.诊断性基因组测序报告结果时需考虑的要点。
Eur J Hum Genet. 2018 Jan;26(1):36-43. doi: 10.1038/s41431-017-0043-9. Epub 2017 Nov 28.
8
Titin-truncating variants affect heart function in disease cohorts and the general population.肌联蛋白截短变异体影响疾病队列和普通人群的心脏功能。
Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21.
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.临床外显子组和基因组测序中次要发现报告的建议，2016年更新版（美国医学遗传学与基因组学学会次要发现v2.0）：美国医学遗传学与基因组学学会政策声明
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Health and population effects of rare gene knockouts in adult humans with related parents.具有血缘关系的成年人类中罕见基因敲除对健康和人口的影响。
Science. 2016 Apr 22;352(6284):474-7. doi: 10.1126/science.aac8624. Epub 2016 Mar 3.