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Table 1 Glossary of parameters

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