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.
Abstract
摘要
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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.遗传性心脏病中的大型新一代测序基因面板：致病变异和意义未明变异的检出率
Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.
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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.
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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.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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A framework for exhaustively mapping functional missense variants.一个详尽映射功能错义变异的框架。
Mol Syst Biol. 2017 Dec 21;13(12):957. doi: 10.15252/msb.20177908.
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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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