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Updated: Jun 19, 2026

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导航一个无信息的基因组测试结果:一个实用指南

Laura St Clair1, Claire Wong1,2, Christopher Elliot3

  • 1Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.

Journal of paediatrics and child health
|February 3, 2025
PubMed
概括

超过一半的基因组测试对遗传疾病产生了不信息的结果. 这份指南有助于儿科医生了解这些结果,并为患者探索进一步的诊断途径.

关键词:
遗传咨询 遗传咨询 遗传咨询基因检测 基因检测是指基因检测.基因组学就是基因组学.儿科 儿科医生 儿科

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Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...