Last data update: 2014.03.03

R: thresholds and power for two-stage gwas
twoStageGwasPowerR Documentation

thresholds and power for two-stage gwas

Description

Computes the critical values for a two-stage gwas association study and compute power for replication and joint analyses.

Usage

twoStageGwasPower(pD, pG, grr, inheritance = "multiplicative", pi.samples, pi.markers, alpha.marker, n.cases, n.controls)

Arguments

pD

Probability of disease in the population (prevalence)

pG

Frequency of disease allele in the population

grr

Genotypic relative risk

inheritance

Inheritance type ("dominant", "recessive", "multiplicative", or "additive"

pi.samples

Proportion of samples genotyped in Stage 1

pi.markers

Proportion of markers genotyped in Stage 2

alpha.marker

Significance level used for each marker, accounting for multiple comparisons among a large number of markers

n.cases

Number of cases

n.controls

Number of controls

Details

This function computes the critical values and powers of the replication and joint methods of analyzing a two-stage GWAS design. Details may be found in Skol AD, Scott, LJ, Abecasis GR, Boehnke M (2006)

Value

A list containing:

power.SingleStage

Power of a one stage design

power.joint

Power of a joint analysis

power.rep

Power of a replication analysis (based only on the second stage markers)

c1

Stage one threshold

c2

Replication (stage two) threshold

c.joint

Joint analysis threshold

c.singleStage

Single stage design threshold

penetrance.GG

Penetrance of the GG genotype (homozygous for disease allele)

penetrance.Gg

Penetrance of the Gg genotype

penetrance.gg

Penetrance of the gg genotype

p0

disease allele frequency in controls

p1

disease allele frequency in cases

p.stageOne

probability that associated markers will be followed up in Stage 2

savings

reduction in genotyping using two-stage design as compared to the single-stage design

Author(s)

Dirk F Moore <dirkfmoore@gmail.com>

References

Skol AD, Scott, LJ, Abecasis GR, Boehnke M (2006) Nature Genetics doi:10.1038/ng1706

http://www.sph.umich.edu/csg/abecasis/CaTS/

Examples

# prevalence of disease is 0.10, the allele frequency is 0.40,
#  a multiplicative model with 0.40 samples in the first stage and
#  10% of the markers selected for Stage 2. There are 1000 cases
#  and 1000 controls, 300,000 markers, with a genome-wide alpha of 0.05

power.gwas.out <- twoStageGwasPower(pD=0.10, pG=0.40, grr=1.40, 
                 inheritance="multiplicative", pi.samples=0.40, pi.markers=0.10, 
                 alpha.marker=0.05/300000, n.cases=1000, n.controls=1000)
power.gwas.out

# Same, but with 1% of markers selected for Stage 2
power.gwas.out2 <- twoStageGwasPower(pD=0.10, pG=0.40, grr=1.40, 
             inheritance="multiplicative", pi.samples=0.40, pi.markers=0.010, 
             alpha.marker=0.05/300000, n.cases=1000, n.controls=1000)
power.gwas.out2

# Same, but a dominant model with 4000 controls and 2000 cases
power.gwas.out3 <- twoStageGwasPower(pD=0.10, pG=0.40, grr=1.40, 
           inheritance="dominant", pi.samples=0.40, pi.markers=0.10, 
           alpha.marker=0.05/300000, n.cases=2000, n.controls=4000)
power.gwas.out3

Results