Table 3. Detection Probabilities for High-Risk Variants.
Selection |
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Single gene model | ||||
All Individuals | 0.010 | 0.010 | 0.010 | 0.010 |
Cases | 0.015 | 0.020 | 0.029 | 0.048 |
w/affected sibs | 0.019 | 0.029 | 0.057 | 0.130 |
sharing 1 or 2 IBD | 0.020 | 0.032 | 0.066 | 0.155 |
sharing 2 IBD | 0.022 | 0.039 | 0.083 | 0.201 |
With a second, nuisance locus | ||||
All Individuals | 0.010 | 0.010 | 0.010 | 0.010 |
Cases | 0.014 | 0.019 | 0.028 | 0.045 |
w/affected sibs | 0.017 | 0.026 | 0.049 | 0.109 |
sharing 1 or 2 IBD | 0.018 | 0.029 | 0.056 | 0.130 |
sharing 2 IBD | 0.020 | 0.034 | 0.070 | 0.169 |
In each scenario there is a sporadic disease rate of 1% and the high-risk allele of interest elevates the disease risk by a factor of , which varies across columns. The rows represent increasingly restrictive sampling rules, and the probability that the high risk allele is present (one or two copies) in a sampled proband is tabulated. In the upper half of the table, risk depends only on one locus. In the lower half, there is also a nuisance locus, with a 5 percent allele frequency, i.e. 10 times as common as the allele of interest, and additive with its effect.