Table 1 Descriptive statistics of variants from reference materials
From: Development and validation of next generation sequencing based 35-gene hereditary cancer panel
Specimen | Number of variants | ||
SNVs | Indels | Total | |
Cohort I: blinded group (n = 94) | 4738 | 20 | 4758 |
Specimen | Number of pathogenic/likely pathogenic variants | ||
SNVs | Indels | Total | |
Cohort II: positive reference samples (n = 53) | 31 | 31 | 62 |
TOTAL | 4769 | 51 | 4820 |