Copy number variation (CNV) is not easily detectable with conventional Sanger sequencing, so CNVs have been underestimated in clinical genetics. Meanwhile, with the advent of nextgeneration sequencing (NGS), the detection of CNV has become technically possible and it is expected that more and more CNV could be detected. However, even after several years’ clinical
NGS experience in Korea, the attitude toward CNV has not changed dramatically. The talks in this session will cover the theoretical background and current update of CNV detection methods including Copy-number Analysis by BAse-level NormAlization (CABANA) developed by Dxome (Korea) in collaboration with our group, and a Korean clinical laboratory’s CNV detection experience will be shared among the audience.
Dxome Co., Ltd. is a precision medicine company that develops and manufactures molecular diagnostic products for cancer and infectious disease. Dxome strived to follow its slogan, “Everything about Dx(Diagnosis),” to provide products and services of high quality to improve the state of healthcare. We possess competitive BT and IT technologies and have integrated both technologies to commercialized precision diagnosis platform. Moreover, we developed NGS-based precision medicine products utilizing artificial intelligence and big data technologies to provide optimal treatment plans. In addition, as the industry leader, we are in-process of developing products for early detection, companion diagnostics, recurrence and post-treatment monitoring based on liquid biopsy to meet the needs of the markets. In order to meet the need of the rapidly changing field of medical diagnosis and international affairs, Dxome strives to perform ahead of the competitors by engaging in future-orientated product development, including detection of rare disorders and early diagnosis of solid tumors, companion diagnostics with targeted therapy, infectious disease and antibiotic resistance.
DxLiquid Pan100 and TMB500 replaces the conventional tissue biopsy methods by utilizing blood samples to detect somatic cancers. DxLiquid Pan100 can detect various types of cancers with 95% sensitivity while DxLiquid TMB500 uses complex biomarkers (RNA fusion, MSI, and TMB) for a comprehensive diagnosis with LOD down to 0.25% (0.1% reportable range). Our panels analyze the data collected by integrating SNV, InDel, CNV, RNA-fusion, MSI (Microsatellite Instability), and TMB (Tumor Mutation Burden) information, enabling precise diagnosis of cancer at an early stage. ▶ Features NGS Product - Minimization library prep steps - Hybridization method - High quality capture probes - High efficiency and reproducibility - High value biomarkers: Core genes included (HER2, EGFR, ALK, KRAS, NRAS, BRAF, BRCA1/2, KIT, IDH1/2, PDGFRA, MYC, MYCN and more)
DxSeq BRCA 1/2 is a genetic test for breast and ovarian cancer. The NGS panel is designed to screen for heritable germline mutations to identify at risk patients and provide valuable information to the patient and their family to make informed cancer management decisions. It identifies SNV, indel, and CNV in BRCA1 and BRCA2 genes (breast cancer-related genes) with outstanding performance of >99.99% accuracy, 100% sensitivity, >99.99% specificity, and 100% reproducibility. The product obtained its CE certification in 2021. ▶ Features - Compatible with Illumina platform - Hybridization based target enrichment - Complete coverage of BRCA1/2 genes - Detects Single Nucleotide Variation(SNV), Small indel, Copy Number Variation(CNV)