Genome-wide Association Simulator - Output Formats for Case-ControlThis page describes output formats for case-control |
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In all instances, 0 represents the major allele, 1 represents the minor allele. Genotypes are coded as the number of minor alleles, so genotypes can assume the values 0,1, or 2.
Suppose a user asks for n cases or controls. The haplotype output format would be:
column 1: chromosome number
column 2: SNP ID
column 3: physical location of the SNP
column 4: minor allele frequency of the SNP in HapMap CEU trios
column 5 through 2n + 4: haplotypes
An example with 5 SNPs, 10 controls, on chromosome 10:
10 rs1247696 29826038 0.01666667 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 rs6481613 29831217 0.41666667 1 1 0 1 0 1 0 1 0 1 0 1 0 0 1 0 0 0 1 1 10 rs2182402 29835030 0.41666667 1 1 0 1 0 1 0 1 0 1 0 1 0 0 1 0 0 0 1 1 10 rs4747667 29840416 0.36666667 1 1 0 0 0 1 0 1 0 1 0 1 0 0 1 0 0 0 1 1 10 rs3740003 29844044 0.25000000 1 1 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1The genotype output format would be: column 1: chromosome number column 2: SNP ID column 3: physical location of the SNP column 4: minor allele frequency of the SNP in HapMap CEU trios column 5 through n + 4: genotypesThe same example with 5 SNPs, 10 controls, on chromosome 10:
10 rs1247696 29826038 0.01666667 0 0 0 0 0 0 0 0 0 0
10 rs6481613 29831217 0.41666667 2 1 1 1 1 1 0 1 0 2
10 rs2182402 29835030 0.41666667 2 1 1 1 1 1 0 1 0 2
10 rs4747667 29840416 0.36666667 2 0 1 1 1 1 0 1 0 2
10 rs3740003 29844044 0.25000000 2 1 0 0 1 0 0 1 0 1
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