Table 1 Valid disease state combinations and corresponding weighting factors for estimating disease state rates
Variant frequencies provided | Required weighting factors |
|---|---|
Familial (\({M}_{F}\)), Sporadic (\({M}_{S}\)) | \({W}_{F}=P\left(F|A\right)\), \({W}_{S}=P(S|A)\) |
Familial (\({M}_{F}\)), Unaffected (\({M}_{U}\)) | \({W}_{F}=P(F|A)\times P{\left(A\right)}^{pop}\), \({W}_{U}=1-P{\left(A\right)}^{pop}\) |
Sporadic (\({M}_{S}\)), Unaffected (\({M}_{U}\)) | \({W}_{S}=P\left(S|A\right)\times P{\left(A\right)}^{pop}\), \({W}_{U} =1-P{\left(A\right)}^{pop}\) |
Familial (\({M}_{F}\)), Sporadic (\({M}_{S}\)), Unaffected (\({M}_{U}\)) | \({W}_{F}=P(F|A)\times P{\left(A\right)}^{pop}\), \({W}_{S}=P(S|A)\times P{\left(A\right)}^{pop}\), \({W}_{U}=1-P{\left(A\right)}^{pop}\) |
Affected (\({M}_{A}\)), Unaffected (\({M}_{U}\)) | \({W}_{A}=P{\left(A\right)}^{pop}\), \({W}_{U}=1-P{\left(A\right)}^{pop}\) |