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Updated: Jul 11, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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探索遗传测试中未经请求的发现的不确定性.

Vyne van der Schoot1, Eline van der Meer2, Marij A Hillen3

  • 1Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.

Patient education and counseling
|November 17, 2023
PubMed
概括

临床遗传学中关于事实和价值的不确定性很大,特别是在未经请求的发现 (UF) 方面. 道德冲突,例如自主与慈善,是这种不确定性的关键驱动力,影响了遗传咨询.

关键词:
临床遗传学 临床遗传学规范性 规范性 规范性不确定性 不确定性不被要求的发现.

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