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Updated: Sep 12, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

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长读基因组测序揭示了自闭症中结构和重复变异的各种功能后果

Milad Mortazavi1, James Guevara1, Joshua Diaz1

  • 1Department of Psychiatry, University of California San Diego, La Jolla, CA, USA.

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

长读全基因组测序 (LR-WGS) 显著改善了结构变异和并列重复的检测,发现了自闭症谱系障碍 (ASD) 的新型遗传风险因素. 这种先进的技术揭示了复杂的遗传变异及其功能影响.

关键词:
CGG重复了一遍.FMR1 FMR1 的使用情况.长时间阅读阅读负荷测试试验 负荷测试试验复杂的SVs复杂的SVs在新的SVs de novo.甲基化疗法 甲基化疗法结构变化的结构变化.串联重复重复的重复

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