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Updated: Jan 12, 2026

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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复杂的de novo结构变异是罕见疾病的一个被低估的原因

Hyunchul Jung1, Tsun-Po Yang2, Susan Walker3

  • 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hj6@sanger.ac.uk.

Nature communications
|November 3, 2025
PubMed
概括

复杂的新型结构变异 (dnSV) 是罕见疾病的重要原因. 这项研究揭示了它们的流行和特征,强调了需要先进的基因组分析来识别这些关键的遗传因素.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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