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Updated: Jul 28, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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识别涉及高近视的罕见变体,由全基因组测序揭示出来

Annechien E G Haarman1,2, Caroline C W Klaver1,2,3,4, Milly S Tedja1,2

  • 1Erasmus MC, Department of Ophthalmology, Rotterdam, The Netherlands.

Ophthalmology science
|May 30, 2023
PubMed
概括

罕见的遗传变异在很大程度上导致高近视,近视的严重形式. 全基因组测序发现了新型基因,这可能解释了这种复杂的眼睛疾病中缺失的遗传性.

关键词:
这是一种失明,失明.复杂的遗传学复杂的遗传学遗传风险评分是基因风险评分.孟德尔的疾病是孟德尔的疾病.

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