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Updated: May 5, 2026

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在英国生物库中对49960个个体的外体序列测定和表征

Cristopher V Van Hout1, Ioanna Tachmazidou2,3, Joshua D Backman4

  • 1Regeneron Genetics Center, Tarrytown, NY, USA. cristopher.vanhout@regeneron.com.

Nature
|October 22, 2020
PubMed
概括

英国生物银行发布了近5万名参与者的外体序列数据,确定了数百万个编码变体,包括许多功能丧失 (LOF) 变体. 这一数据集揭示了2%的个体与疾病的新遗传关联和可操作的变异.

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