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Updated: Aug 15, 2026

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10万个基因组中的心肌病项目:间隔评估改善了诊断产量,并为正在进行的基因发现策略提供了信息

Katherine S Josephs1,2, Eleanor G Seaby3,4,5, Philippa May6,7

  • 1National Heart and Lung Institute, Imperial College London, London, UK. kjosephs@imperial.ac.uk.

Genome medicine
|October 30, 2024
PubMed
概括

在10万个基因组项目 (100KGP) 中的基因组测序显著改善了儿科心肌病的诊断. 对遗传数据的重新分析发现了新的致病变异,强调了持续的基因组研究和数据共享的必要性.

关键词:
10万个基因组项目心肌病是一种心肌病.遗传诊断是一种基因诊断.基因组测序是指基因组的测序.儿科 儿科 儿科

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