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Updated: Jun 29, 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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转录组学和长期读取的基因组学的整合优先考虑了罕见疾病中的结构变异

Tanner D Jensen1, Bohan Ni2, Chloe M Reuter3

  • 1Stanford University.

medRxiv : the preprint server for health sciences
|April 8, 2024
PubMed
概括

长读测序显著改善了与孟德尔病相关的罕见结构变异 (SV) 的检测. 将基因表达数据与一个新的模型 (Watershed-SV) 集成,优先考虑功能性SV和并联重复扩展,用于诊断罕见的遗传疾病.

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RNA-seq03:21

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