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Updated: Jul 20, 2025

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

Published on: June 15, 2011

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超越外体:门德尔条件的诊断测试下一步是什么

Monica H Wojcik1, Chloe M Reuter2, Shruti Marwaha2

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

American journal of human genetics
|August 4, 2023
PubMed
概括

许多被怀疑患有遗传疾病的个体在外基因组测序后仍然未被诊断出来. 本综述指导了对不确定的分子测试,探索新技术和研究推的下一步.

关键词:
这是PacBio测序.有关RNA测序的RNA测序异种组的重新分析.长时间阅读序列排序.肉类瘤学 肉类瘤学纳米孔测序的测序非诊断的外基因组通过光学基因组映射进行基因组映射.

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