Table 1

Glossary of parameters
Notations Meaning
subscript Individuals
i, j = 1,…,n
subscript k = 1,…,m variant/marker
s Iteration
pk frequency of the reference allele of the k-th variant
xik = 0,1,2 indicator variable of genotype for the k-th variant of the i-th individual
Φ kinship matrix
superscript T matrix transpose
zi indicator variable of presence of rare variants in the region for the i-th individual
hi inbreeding coefficient of individual i
γ2k, γ1k relative risks
Pcorr correction factor in the test statistics accounting for the relatedness
nG number of controls
nc number of cases
p Pr(presence of rare variants in the genomic region)
TC population-based collapsing test statistic
TCF family-based collapsing test statistic
TWSS population-based weighted sum statistic
TWSSF family-based weighted sum statistic
TVT population-based variant threshold statistic
TVTF family-based variant threshold statistic

Shugart et al.

Shugart et al. BMC Genomics 2012 13:667   doi:10.1186/1471-2164-13-667

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