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在来自不同人群的29,745名发育障碍患者中对自体逆向编码变异进行联合分析

V Kartik Chundru1,2, Zhancheng Zhang3,4, Klaudia Walter1

  • 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.

Nature genetics
|September 23, 2024
PubMed
概括

自体逆向编码变体对发育障碍有很大的贡献,特别是在祖先多样化的群体中. 改进已知的基因变异的解释提供了一个有前途的诊断策略.

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