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Updated: Jul 26, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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微卫星不稳定性检测各种方法之间的差异的定性和定量方面

M Staninova-Stojovska1, N Matevska-Geshkovska1, E Krstevska-Bozhinovikj1

  • 1Center for Biomolecular Pharmaceutical Analysis, Faculty of Pharmacy, University "Ss. Cyril and Methodius" in Skopje, RN Macedonia.

Balkan journal of medical genetics : BJMG
|November 7, 2025
PubMed
概括

下一代测序 (MSI-NGS) 提供了一种比传统的IHC和MSI-PCR测试更精确的方法来检测缺陷不匹配修复 (dMMR). 这种定量方法可以改善林奇综合征患者的免疫治疗预测.

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Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

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