Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations
作者： Su-Hye Choi , Seung-Hyun Jung , Yeun-Jun Chung
关键词: Computational biology 、 Somatic cell 、 DNA sequencing 、 Gene 、 Real-time polymerase chain reaction 、 Druggability 、 Biology 、 Precision medicine 、 DNA 、 COSMIC cancer database
摘要: Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part precision medicine. With targeted sequencing, we can obtain deeper coverage reads and handle data more easily with a relatively lower cost less time than whole-exome or whole-genome sequencing. Recently, designed customized gene panel for sequencing major solid cancers. In this study, aimed to validate its performance. The cancer targets 95 cancer-related genes. terms the limit detection, 86% target mutant allele frequency (MAF) 3% MAF be detected. When applied system analysis Acrometrix Oncology Hotspot Control DNA, which contains 500 COSMIC across 53 genes, 99% expected were robustly We also confirmed high reproducibility multiple independent analyses. explored copy number alterations (CNAs), CNAs successfully detected, result was by target-specific quantitative polymerase chain reaction. Taken together, these results support reliability accuracy our detecting mutations. This could useful key mutation profiling research tumors clinical translation.
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