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Updated: Sep 12, 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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发现了缺失的自闭症变体的惊人发现

Yang Sui1, Jiadong Lin1, Michelle D Noyes1

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

medRxiv : the preprint server for health sciences
|August 8, 2025
PubMed
概括

自闭症家族的长读测序确定了短读方法遗漏的致病变体. 阶段性基因组和泛基因组改善了复杂突变的检测,推进了自闭症遗传学研究.

关键词:
自闭症自闭症是什么长时间阅读序列排序.它们是万科动物.病原性变体的病原性变体罕见的结构变异.

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