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自闭症的基因组架构来自全面的全基因组序列注释

Brett Trost1, Bhooma Thiruvahindrapuram2, Ada J S Chan1

  • 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Cell
|November 11, 2022
PubMed
概括

全基因组测序 (WGS) 揭示了自闭症谱系障碍 (ASD) 的遗传变异. 这项研究分析了11,312名个体,在14.1%的自闭症病例中发现了罕见的变异,进步了自闭症遗传学研究.

关键词:
自闭症谱系障碍副本数量的变化神经发育疾病表型测量多基因风险评分罕见的变种结构变化全基因组测序

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