Table 3. Reproducibility of indel variants and single nucleotide variant (SNV) detection.
Sample: variant | Replicates | Expected variants | Called variants | Reproducibility, % | ||||||
---|---|---|---|---|---|---|---|---|---|---|
1st batch | 2nd batch | 3rd batch | 1st batch | 2nd batch | 3rd batch | 1st batch | 2nd batch | 3rd batch | ||
YMC1: BRCA1, c.5496_5506delinsA | 1 | 1 | 3 | 1 | 1 | 3 | 1 | 1 | 3 | 100 |
YMC2: BRCA2, c.2798_2799del | 1 | 1 | 3 | 1 | 1 | 3 | 1 | 1 | 3 | 100 |
YMC3: BRCA1, c.922_924delinsT | 1 | 1 | 3 | 1 | 1 | 3 | 1 | 1 | 3 | 100 |
YMC1: 12 SNVs | 1 | 1 | 3 | 12 | 12 | 36 | 12 | 12 | 36 | 100 |
YMC2: 13 SNVs | 1 | 1 | 3 | 13 | 13 | 39 | 13 | 13 | 39 | 100 |
YMC3: 18 SNVs | 1 | 1 | 3 | 18 | 18 | 54 | 18 | 18 | 54 | 100 |
SNV = single nucleotide variant; YMC = Yonsei Medical Center.