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Updated: May 26, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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长读测序解决了临床相关的CYP21A2位点,支持对先天性上腺增生症的新临床测试

Jean Monlong, Xiao Chen, Hayk Barseghyan

    medRxiv : the preprint server for health sciences
    |February 24, 2025
    PubMed
    概括

    长读测序为先天性上腺增生症 (CAH) 提供了全面的基因测试,在单个试验中识别所有致病性等位基因,包括复杂的重新排列和分相. 这种先进的分子遗传测试改善了对CAH的诊断和理解,解决了当前方法的局限性.

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