张贝
(2023-02-28 23:21):
#paper Nat Med. 2014 Dec;20(12):1479-84.doi: 10.1038/nm.3729. Anchored multiplex PCR for targeted next-generation sequencing
本文首次报道了锚定多重PCR技术(AMP)在基因融合检测方面的应用。与RACE技术的原理类似,AMP将待检测的DNA片段与半功能通用接头连接,经过两轮巢式PCR扩增富集目标片段。与其他常规PCR技术相比,AMP仅通过一端的信息就可以富集目标区域。目前AMP的应用范围已经扩展检测基因的点突变、插入缺失、拷贝数变异、RNA表达等方面。
Anchored multiplex PCR for targeted next-generation sequencing
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Abstract:
We describe a rapid target enrichment method for next-generation sequencing, termed anchored multiplex PCR (AMP), that is compatible with low nucleic acid input from formalin-fixed paraffin-embedded (FFPE) specimens. AMP is effective in detecting gene rearrangements (without prior knowledge of the fusion partners), single nucleotide variants, insertions, deletions and copy number changes. Validation of a gene rearrangement panel using 319 FFPE samples showed 100% sensitivity (95% confidence limit: 96.5-100%) and 100% specificity (95% confidence limit: 99.3-100%) compared with reference assays. On the basis of our experience with performing AMP on 986 clinical FFPE samples, we show its potential as both a robust clinical assay and a powerful discovery tool, which we used to identify new therapeutically important gene fusions: ARHGEF2-NTRK1 and CHTOP-NTRK1 in glioblastoma, MSN-ROS1, TRIM4-BRAF, VAMP2-NRG1, TPM3-NTRK1 and RUFY2-RET in lung cancer, FGFR2-CREB5 in cholangiocarcinoma and PPL-NTRK1 in thyroid carcinoma. AMP is a scalable and efficient next-generation sequencing target enrichment method for research and clinical applications.
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