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Jihun Kim

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Open access Aug 2026

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.

Joonsang Yu, Jaeyeon Ryu, Sollip Kim et al. · 0 citations

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