Slide 3
Slide 3 text
Combined sum test of rare/common
• Extension of SKAT-o for rare/common variants
• Assume
• Formulation
• Assume and , where F() is a
arbitral distribution.
• Correlation of coefficients: and
• Test hypothesis:
• Score test for
• should be pre-specified
• Iuliana et al. (2013) recommend to use
→ and have same variance
Other
covariates
Genotype vector of
rare variants
Genotype vector of
common variants
Yi = ↵0 + Xi↵ + Grare
i 1 + Gcommon
i 2 + " " ⇠ N(0, 2)
2j
⇠ F(0, w2
2j
⌧)
1j
⇠ F(0, w2
1j
(1 )⌧)
H0 : 1 = 2 = 0 , H0 : ⌧ = 0
cor( 1j, 1k) = ⇢1
cor( 2j, 2k) = ⇢2
⌧ = 0
Q( , ⇢1, ⇢2) = (1 )Qrare + Qcommon
⇠ Mixture of 2
1
=
SD(Qrare)
SD(Qrare) + SD(Qcommon)
(1 )Qrare
Qcommon