The Korean Journal of Clinical Laboratory Science : eISSN 2288-1662 / pISSN 1738-3544

Table 1.

Next generation sequencing variant call criteria

Nucleotide variation Variant call criteria
SNV/INDEL VAF: ≥5% in SNV
5% in INDEL
CNV Amplification: avg. CNV ≥4 (gain), <1 (loss)
Translocation (fusion gene) Read counts: ≥20
Total valid mapped reads: ≥50,000

Variant detection/Interpretation: Ion Reporter V5.6, Oncomine Reporter.

Abbreviations: SNV/INDEL, single nucleotide variation/small insertions, deletion; VAF, variation allele frequency; CNV, copy number variation.

Korean J Clin Lab Sci 2023;55:93-104 https://doi.org/10.15324/kjcls.2023.55.2.93
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