From: Weighted pedigree-based statistics for testing the association of rare variants
Notations | Meaning |
---|---|
subscript | Individuals |
i, j = 1,…,n |  |
subscript k = 1,…,m | variant/marker |
s | Iteration |
p k | frequency of the reference allele of the k-th variant |
x ik  = 0,1,2 | indicator variable of genotype for the k-th variant of the i-th individual |
Φ | kinship matrix |
superscript T | matrix transpose |
z i | indicator variable of presence of rare variants in the region for the i-th individual |
h i | inbreeding coefficient of individual i |
γ2k, γ1k | relative risks |
P corr | correction factor in the test statistics accounting for the relatedness |
n G | number of controls |
n c | number of cases |
p | Pr(presence of rare variants in the genomic region) |
T C | population-based collapsing test statistic |
T CF | family-based collapsing test statistic |
T WSS | population-based weighted sum statistic |
T WSSF | family-based weighted sum statistic |
T VT | population-based variant threshold statistic |
T VTF | family-based variant threshold statistic |