Calibrated Functional Data Decrease Clinical Uncertainty for -Related Long-QT Syndrome.
作者信息
Ng Chai-Ann, O'Neill Matthew J, Padigepati Samskruthi R, Ting Yi-Lee, Facio Flavia M, Vatta Matteo, Poll Sarah R, Reuter Jason A, Vandenberg Jamie I, Kroncke Brett M
机构信息
Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (C.-A.N., J.I.V.).
School of Clinical Medicine, UNSW Sydney, NSW, Australia (C.-A.N., J.I.V.).
出版信息
Circ Genom Precis Med. 2025 Jul 18:e005204. doi: 10.1161/CIRCGEN.125.005204.
Abstract
摘要
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2
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3
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.可扩展的方法，用于生成、验证和整合高通量功能测定数据，以改善临床变异分类。
Hum Genet. 2024 Aug;143(8):995-1004. doi: 10.1007/s00439-024-02691-0. Epub 2024 Aug 1.
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Will variants of uncertain significance still exist in 2030?2030 年，不确定意义的变异体还会存在吗？
Am J Hum Genet. 2024 Jan 4;111(1):5-10. doi: 10.1016/j.ajhg.2023.11.005. Epub 2023 Dec 11.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Sherloc：ACMG-AMP 变异分类标准的全面细化。
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