혈액내 ctDNA 등 낮은 빈도의 변이를 확인하기 위한 Targeted DNA sequencing 방법. PCR 증폭전에 UMI (Unique molecular index) 라는 유니크한 랜덤서열(12bp)를 붙혀주고, 이를 이용하여, 클러스터링 하고 분석한다. QIAseq이라는 대표적인 QIAGEN사의 키트와 분석방법이 잘 알려져 있다.
관련정보
관련논문
- Detecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant caller BMC Genomics : 관련 프로그램 smCounter 논문
- Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA PLOS One
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