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Updated: Jul 26, 2025

Novel Sequence Discovery by Subtractive Genomics
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在瑞典人口中发现了非参考加工的伪基因

Esmee Ten Berk de Boer1, Kristine Bilgrav Saether1,2, Jesper Eisfeldt1,2,3

  • 1Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Frontiers in genetics
|June 16, 2023
PubMed
概括

这项研究揭示了人类基因组中的成千上万个新处理的伪基因,突出了它们的变异性和在DNA测试中的潜在用途. 开发的管道还提高了结构变化分析的准确性.

关键词:
临床诊断 临床诊断 临床诊断人口基因组学经过加工的假基因.变量调用变量调用整个基因组的测序.

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