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Updated: Jul 4, 2025

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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通过从MAGIC项目的全外测序对单源综合征高近视的查突变进行测序

Chong Chen1,2,3,4, Gang An5, Xiaoguang Yu5

  • 1National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, China.

Investigative ophthalmology & visual science
|February 5, 2024
PubMed
概括

这项研究在3.6%的患者中确定了单一性综合征性高近视 (msHM) 的遗传突变. 分子亚型对遗传咨询和高近视多专业护理至关重要.

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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...
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