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Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

Kim H, Won D, Shin S, Lee ST, Choi JR

Next-generation sequencing is widely used to detect a variety of genetic defects in many disorders. The detection of somatic variants in patients with cancer, including hematologic malignancy, is important for...
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Development of a Method for Manufacturing External Quality Assessment Material for Genetic Testing of Solid Tumors Using Mutant and Wild-Type Cell Lines

Hong J, Kim JH, Park S, Lee SG, Lee W, Chun S, Min WK

Background: DNA extracted from mutant cell lines is frequently used as an external quality assessment (EQA) material for genetic testing of solid tumors because it is easy to obtain. However,...
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Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies

Kim H, Yun JW, Lee ST, Kim HJ, Kim SH, Kim JW, The Korean Society for Genetic Diagnostics Clinical Guidelines Committee

Next-generation sequencing (NGS) is currently used in the clinical setting for targeted therapies and diagnosis of hematologic malignancies. Accurate detection of somatic variants is challenging because of tumor purity, heterogeneity,...
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