Lee Dongin, Kim Taehoon, Bang Duhee
Department of Chemistry, Yonsei University, Seoul, Seodaemun-gu, Korea.
PLoS One. 2025 Jun 4;20(6):e0325385. doi: 10.1371/journal.pone.0325385. eCollection 2025.
Hybrid-capture based target enrichment and multiplex PCR methods enhance sequencing efficiency by focusing on specific genomic regions, while struggling to enrich tens of regions spanning hundreds to thousands of base pairs. We developed MAGNET-seq (Multiplex Amplification and tarGeted eNrichment of sElecTed sequences), a streamlined method that integrates targeted multiplex PCR with hybrid capture. We evaluated its performance using two primer sets: a Drug Resistance Targeting Primers with 43 targets and a Reference Primers set with 7 targets, including clinically relevant mutations such as EGFR c.2369C > T (p.T790M) and KRAS c.35G > T (p.G12C). Using a set of 43 target primers, MAGNET-seq demonstrated higher on-target ratios (average 86.2%) compared to standard targeted multiplex PCR (average 2.2%). Furthermore, MAGNET-seq with 7 target primers showed concordant variant allele frequencies (VAF) in low-VAF (≤ 1%) reference cell-free DNA (cfDNA) samples (0.05% to 1%), supporting its reproducibility. This approach provides a simplified and cost-efficient solution for targeted sequencing, particularly well-suited for applications that require detection of low-allele frequency variants such as somatic cancer mutations.
基于杂交捕获的目标富集和多重PCR方法通过聚焦特定基因组区域提高测序效率,但在富集跨越数百到数千个碱基对的数十个区域时存在困难。我们开发了MAGNET-seq(选定序列的多重扩增和靶向富集),这是一种将靶向多重PCR与杂交捕获相结合的简化方法。我们使用两组引物评估了其性能:一组有43个靶点的耐药靶向引物和一组有7个靶点的参考引物,包括临床相关突变,如EGFR c.2369C>T(p.T790M)和KRAS c.35G>T(p.G12C)。使用一组43个靶点的引物,与标准靶向多重PCR(平均2.2%)相比,MAGNET-seq显示出更高的靶向率(平均86.2%)。此外,使用7个靶点引物的MAGNET-seq在低VAF(≤1%)的参考游离DNA(cfDNA)样本(0.05%至1%)中显示出一致的变异等位基因频率(VAF),支持其可重复性。这种方法为靶向测序提供了一种简化且经济高效的解决方案,特别适用于需要检测低等位基因频率变异(如体细胞癌突变)的应用。