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Updated: Jun 14, 2025

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推进长时间读取的纳米孔基因组组装和准确的变异,要求检测罕见疾病

Shloka Negi, Sarah L Stenton, Seth I Berger

    medRxiv : the preprint server for health sciences
    |September 4, 2024
    PubMed
    概括

    长读数测序 (LRS) 通过发现短读数测序 (SRS) 遗漏的变体,显著改善了罕见疾病的诊断. 这种先进的技术有助于解决复杂的遗传病例,增强临床基因组学.

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