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Updated: Mar 12, 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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长读基因组测序改善了自闭症结构和重复变异的检测和功能解释

Milad Mortazavi1, James Guevara1, Joshua Diaz1

  • 1Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA.

Cell genomics
|March 10, 2026
PubMed
概括

长读全基因组测序 (LR-WGS) 提高了在自闭症谱系障碍 (ASD) 家庭中检测结构变异 (SV) 和并列重复 (TR) 等遗传变异的检测. 这种先进的测序方法有助于理解ASD的遗传基础.

关键词:
CGG重复了一遍.FMR1 FMR1 的使用情况.自闭症自闭症是什么负载测试 负载测试复杂的SVs复杂的SVs这是一种de novo突变.长时间阅读序列排序.甲基化处理 甲基化处理结构变化的结构变化.串联重复重复的重复

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