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Updated: Mar 15, 2026

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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精确且具有成本效益的工作流程整合了三组聚合的WES,用于在神经发育障碍中发现新基因

Lucía López-López1, Laura Lapeña-Gil1, Yolanda Benítez1,2,3

  • 1Department of Genetics & Genomics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

European journal of human genetics : EJHG
|March 14, 2026
PubMed
概括

使用聚合DNA全外体测序 (WES) 的新诊断工作流改善了神经发育障碍 (NDD) 的遗传诊断. 这种具有成本效益的方法可以识别新的基因,并在具有挑战性的病例中提高诊断产量.

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