A novel NGS based cancer genetic testing solution on high-throughput sequencer BGISEQ-500


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Shida Zhu1,Jing Yu1,Libin Shao1,Ao Chen2,Zhe Wang3,Hui Jiang1
1BGI,2CGI China,3BGI-Dx

Abstract

Background

Next-generation sequencing (NGS) technology has been widely used in cancer research and gradually in clinical decision-making. However, the relatively high cost of sequencing instruments, consumables and library preparing reagents is a crucial limitation blocking deeper use of this technology.

Method

A new NGS system of low cost, high flexibility, promising accuracy and easy-to-operate, which integrates automatic sample preparing and sequencing, is needed for promoting both cancer research and precision medicine. Here we introduce a systematic solution for cancer genetic testing based on a novel next-generation sequencer BGISEQ-500, which meets the current needs. The panel contains specific lung cancer related genes and covers multiple mutation types including single nucleotide variants (SNVs), insertions/deletions (InDels), copy number variations (CNVs) and particular structure variations (SV) like gene fusions. In one of our preliminary study, hundreds of clinical lung cancer samples including formalin-fixed paraffin-embedded (FFPE) tissues were blind-tested using target region sequencing based on the panel solution. Besides lung cancer, we also tested other cancers (e.g. liver cancer, gastric cancer) with different sample types including plasma circulating DNA.

Results

Compared to the clinical pathological results, our tests showed both high sensitivity and specificity in all mutation types. The BGISEQ-500 cancer genetic testing solution increases the ability to identify genomic alterations with therapeutic relevance. 

Conclusion

The results demonstrated the cancer genetic testing solution based on the BGISEQ-500 sequencer is a robust tool to assist in cancer research and clinical genetic detection.