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验证变异效应的多重测定数据:对NHS临床科学家进行的CanVIG-UK全国调查

Sophie Allen1, Alice Garrett2, Charlie F Rowlands1

  • 1Division of Genetics and Epidemiology, the Institute of Cancer Research, London, UK.

American journal of human genetics
|June 6, 2025
PubMed
概括

变异效应多重检测 (MAVEs) 的临床采用需要可信的中央机构来验证功能遗传变异数据. 如果没有这种验证,在诊断报告中广泛使用将被显著推迟.

关键词:
在ACMG/AMP变种分类框架中,布里尼赫式验证方式维格-英国关于MAVE数据的数据在PS3/BS3中获得的分数.临床变异分类临床变异分类变体真相集是一个变体真相集.

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Data Validation01:03

Data Validation

Data validation is an essential part of a comprehensive assessment. Validation is confirming or verifying and opening the door to gathering more assessment data as it clarifies vague or unclear data. The process of checking and verifying the collected information is called data validation. The primary purpose of data validation is to ensure data is as free from error, bias, and misinterpretation as possible.
Nursing assessment guides are generally based on holistic models rather than medical...