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Updated: Jul 1, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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基因组诊断在牛皮表皮溶解中的演变:揭示下一代测序的力量

R Baardman1, H H Lemmink2, V K Yenamandra3

  • 1Department of Dermatology, UMCG Centers of Expertise for Blistering Diseases and Genodermatoses, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Journal of the European Academy of Dermatology and Venereology : JEADV
|March 11, 2024
PubMed
概括

下一代测序 (NGS) 显著改善了表皮溶解牛 (EB) 诊断,增加了诊断产量,减少了周转时间. 这一进步对于在罕见的遗传性皮肤疾病中准确预测和精准医学至关重要.

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