Table 2.
Cohorts and genes | Methoda | n1 | n2 | n3 | n4 | P value |
---|---|---|---|---|---|---|
AF ≤8e–5 | ||||||
CNS (n = 336) NF1 | Jointly called full genotype | 12 | 324 | 6 | 8169 | 1.77e–13 |
CoCoRV using in-house controls | 11 | 325 | 6 | 8169 | 3.09e–12 | |
CoCoRV using gnomAD as controls | 11 | 325 | 262 | 125,486 | 2.82e–10 | |
ALL (n = 958) ETV6 | Jointly called full genotypes | 6 | 952 | 0 | 8175 | 1.31e–06 |
CoCoRV using in-house controls | 7 | 951 | 1 | 8174 | 9.96e–07 | |
CoCoRV using gnomAD as controls | 7 | 951 | 5 | 125,743 | 1.06e–12 | |
AF ≤1e–3 | ||||||
CNS (n = 336) NF1 | Jointly called full genotype | 12 | 324 | 11 | 8164 | 1.08e–11 |
CoCoRV using in-house controls | 11 | 325 | 11 | 8164 | 1.48e–10 | |
CoCoRV using gnomAD as controls | 11 | 325 | 289 | 125,459 | 7.60e–10 | |
ALL (n = 958) ETV6 | Jointly called full genotypes | 6 | 952 | 0 | 8175 | 1.31e–06 |
CoCoRV using in-house controls | 7 | 951 | 1 | 8174 | 9.96e–07 | |
CoCoRV using gnomAD as controls | 7 | 951 | 5 | 125,743 | 1.06e–12 |
AF alternate allele frequency, ALL acute lymphoblastic leukemia, CNS central nervous system.
aThe CoCoRV results were calculated based on the FET.
n1: number of cases with potential pathogenic alleles; n2: number of cases without potential pathogenic alleles; n3: number of controls with potential pathogenic alleles; n4: number of controls without potential pathogenic alleles.