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Table 3 Observed p-values of causal genes in each tested approach and, when applicable, the genetic variant detected

From: Different approaches for dealing with rare variants in family-based genetic studies: application of a Genetic Analysis Workshop 17 problem

Gene

A

B

C

D

E

F

G

H

AKT3

0.52, NA

−0.74 (0.16)

0.52, NA

−0.74 (0.16)

NCV

NCV

NCV

NCV

1, NA

NC (0.16)

1, NA

NC (0.16)

BCL2L11

0.53, NA

−0.21 (0.22)

0.96, NA

−0.02 (0.22)

0.74, NA

−0.03 (0.27)

0.43, C2S2309

0.17 (0.27)

1, NA

NC (0.27)

1, NA

NC (0.27)

1, NA

NC (0.27)

1, NA

NC (0.27)

ELAVL4

0.01*, NA

−0.76 (0.21)

0.98, NA

−0.02 (0.21)

0.28, NA

−0.12 (0.30)

0.01, C1S3201

0.46 (0.30)

1, NA

NC (0.30)

1, NA

NC (0.30)

1, NA

NC (0.30)

1, NA

NC (0.30)

HSP90AA1

0.09, NA

−0.30 (0.04)

0.32, NA

−0.41 (0.04)

0.63, NA

−0.06 (0.04)

0.008, C14S3706

0.20 (0.04)

0.29, C14S3706

−0.03 (0.04)

0.21, C14S3706

−0.15 (0.04)

1, NA

NC (0.04)

1, NA

0.14 (0.04)

NRAS

1, NA

0.00 (0.18)

1, NA

0.00 (0.18)

NCV

NCV

NCV

NCV

1, NA

NC (0.18)

1, NA

NC (0.18)

PIK3C2B

0.61, NA

0.05 (0.18)

0.69, NA

−0.06 (0.18)

0.45, NA

0.12 (0.30)

0.0006, C1S9210

1.47 (0.30)

1, NA

NC (0.30)

1, NA

NC (0.30)

0.01, C1S9183

0.13 (0.30)

0.04, C1S9183

0.11 (0.30)

PIK3C3

1, NA

0.00 (0.28)

1, NA

0.00 (0.28)

0.23, NA

−0.63 (0.34)

0.27, C18S2479

0.02 (0.34)

1, NA

NC (0.34)

1, NA

NC (0.34)

1, NA

NC (0.34)

1, NA

NC (0.34)

PIK3R3

0.12, NA

5.16 (0.17)

1, NA

0.00 (0.17)

0.23, NA

−0.11 (0.17)

0.08, C1S2903

0.30 (0.17)

0.005, C1S2903

0.02 (0.17)

0.005, C1S2903

0.02 (0.17)

0.003, C1S2864

0.15 (0.17)

0.003, C1S2864

0.15 (0.17)

PRKCA

0.82, NA

−0.21 (0.10)

1, NA

0.00 (0.10)

0.24, NA

0.11 (0.17)

0.035, C17S3578

0.64 (0.17)

0.15, C17S4567

0.04 (0.17)

0.15, C17S4567

0.04 (0.17)

1, NA

NC (0.17)

1, NA

NC (0.17)

PRKCB1

0.47, NA

0.15 (0.23)

0.62, NA

0.27 (0.23)

0.75, NA

0.02 (0.23)

0.11, C16S1808

0.29 (0.23)

1, NA

NC (0.23)

1, NA

NC (0.23)

1, NA

NC (0.23)

1, NA

NC (0.23)

PTK2

0.04, NA

−1.62 (0.03)

0.04, NA

0.27 (0.03)

0.17, NA

−0.28 (0.03)

0.029, C8S4830

0.26 (0.03)

1, NA

NC (0.03)

1, NA

NC (0.03)

1, NA

NC (0.03)

1, NA

NC (0.03)

PTK2B

0.89, NA

0.08 (0.13)

1, NA

0.00 (0.13)

0.003, NA

−0.22 (0.20)

0.01, C8S911

−0.14 (0.20)

0.001, C8S911

0.05 (0.20)

0.001, C8S911

0.05 (0.20)

1, NA

NC (0.20)

1, NA

NC (0.20)

RRAS

0.41, NA

−0.19 (0.17)

0.61, NA

−0.42 (0.17)

0.33, NA

0.10 (0.20)

0.08, C19S4940

0.07 (0.20)

1, NA

NC (0.20)

1, NA

NC (0.20)

1, NA

NC (0.20)

1, NA

NC (0.20)

SHC1

0.71, NA

−0.35 (0.09)

1, NA

0.00 (0.09)

0.15, NA

−0.17 (0.09)

0.03, C1S7055

0.00 (0.09)

1, NA

NC (0.09)

1, NA

NC (0.09)

1, NA

NC (0.09)

1, NA

NC (0.09)

SOS2

1, NA

0.00 (0.25)

1, NA

0.00 (0.25)

0.008, NA

−0.26 (0.28)

0.009, C14136

−0.21 (0.28)

1, NA

NC (0.28)

1, NA

NC (0.28)

1, NA

NC (0.28)

1, NA

NC (0.28)

  1. Each cell gives four pieces of information: In the top line, the p-value and the associated genetic variant resulting from a nonconvergent model (or NA if it was not applicable) are given. An asterisk next to the p-value indicates that the gene was significant but enhanced the trait’s heritability. In the second line of each cell, the regression β value obtained in each analysis and the β value used by the GAW17 organization in the data simulation (in parentheses) are given; NC indicates genes not presenting a convergent QTDT model. NCV (no common variants) in a cell indicates that the gene did not present any common variants. Columns A and B were compared to the mean value of β of the simulated SNPs, and columns C–H were compared to the top β among simulated SNPs. The tested approaches A–H are defined in Table 2.