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Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.

作者信息

Floyd Brendan J, Weile Jochen, Kannankeril Prince J, Glazer Andrew M, Reuter Chloe M, MacRae Calum A, Ashley Euan A, Roden Dan M, Roth Frederick P, Parikh Victoria N

机构信息

Division of Cardiology, Department of Pediatrics, Stanford University Medical School, CA (B.J.F.).

Lunenfeld-Tanenbaum Research Institute, Sinai Health (J.W., F.P.R.), University of Toronto, Ontario, Canada.

出版信息

Circ Genom Precis Med. 2023 Feb;16(1):e003792. doi: 10.1161/CIRCGEN.122.003792. Epub 2023 Jan 30.

DOI:10.1161/CIRCGEN.122.003792
PMID:36716194
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9974880/
Abstract
摘要

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Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.
2
A web application and service for imputing and visualizing missense variant effect maps.一个用于推断和可视化错义变异效应图谱的网络应用程序和服务。
Bioinformatics. 2019 Sep 1;35(17):3191-3193. doi: 10.1093/bioinformatics/btz012.
3
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Nat Rev Genet. 2025 Jul 21. doi: 10.1038/s41576-025-00870-x.
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Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy.变异效应的规模化多维分析确定肥厚型心肌病中的序列-功能关系。
bioRxiv. 2025 May 27:2025.05.23.655878. doi: 10.1101/2025.05.23.655878.
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Structural Evaluation of -CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance.儿茶酚胺能多形性室性心动过速错义变体的结构评估及其外显率的连续贝叶斯估计。
medRxiv. 2025 Mar 21:2025.03.20.25324327. doi: 10.1101/2025.03.20.25324327.
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Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.基因型优先策略在孟德尔心血管疾病诊治中的机遇与挑战。
J Am Heart Assoc. 2024 Nov 5;13(21):e033557. doi: 10.1161/JAHA.123.033557. Epub 2024 Oct 18.
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Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve -LQTS Variant Classification and Cardiac Event Risk Stratification.变异效应的多重检测和自动膜片钳技术改进了长QT综合征变异分类和心脏事件风险分层。
Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828. Epub 2024 Sep 24.
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Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve -LQTS Variant Classification and Cardiac Event Risk Stratification.变异效应的多重检测和自动膜片钳技术改善了长QT综合征变异分类和心脏事件风险分层。
medRxiv. 2024 Jun 18:2024.02.01.24301443. doi: 10.1101/2024.02.01.24301443.
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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.系统测试人类 HMBS 错义变异体，以揭示机制和致病性变异。
Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19.
将 ACMG/AMP 变异分类指南建模为贝叶斯分类框架。
Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.
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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
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