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Updated: Jan 25, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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使用泛体的线性引用来发现缺失的自闭症变体

Yang Sui1, Jiadong Lin1, Michelle D Noyes1

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

Nature communications
|January 23, 2026
PubMed
概括

长读测序在未解决的病例中确定了与自闭症相关的复杂遗传变异. 阶段性基因组揭示了短读方法错过的致病突变,有助于变体发现.

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