Jaeyeon Ryu

Panel-based next-generation sequencing with copy number variant detection pipeline could increase the detection rate of hereditary colorectal cancer syndrome compared with Sanger sequencing

Panel-based NGS with CNV analysis was associated with a higher detection rate of clinically relevant variants than phenotype-driven Sanger sequencing in this single-institution cohort, and support the clinical utility of comprehensive germline testing for patients suspected of having hereditary colorectal cancer syndromes.