Table 1. Sample size estimates for the simulated non-syndromic hearing impairment study.
Required power | Gene | MOI | CHP a | SNV b | CHP-M75% c | SNV-M75% |
---|---|---|---|---|---|---|
0.8 | SLC26A4 | Recessive | 11 | 40 | 39 | 160 |
0.9 | SLC26A4 | Recessive | 13 | 45 | 46 | 180 |
0.8 | SLC26A4 | Compound recessive | 11 | 50 | 39 | 200 |
0.9 | SLC26A4 | Compound recessive | 13 | 55 | 46 | 220 |
0.8 | GJB2 | Recessive | 12 | 23 | 44 | 92 |
0.9 | GJB2 | Recessive | 14 | 28 | 52 | 112 |
0.8 | GJB2 | Compound recessive | 12 | 25 | 44 | 100 |
0.9 | GJB2 | Compound recessive | 14 | 34 | 52 | 136 |
0.8 | MYO7A | Dominant | 12 | 16 | 31 | 64 |
0.9 | MYO7A | Dominant | 14 | 20 | 36 | 80 |
0.8 | MYH9 | Dominant | 11 | 13 | 32 | 52 |
0.9 | MYH9 | Dominant | 14 | 18 | 41 | 72 |
Note: 50% locus heterogeneity is assumed for all scenarios.
Number of families required for CHP method.
Number of families required for single variant method.
‘M75%': number of families required when causal variants in 75% participating families are missing.