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, 17:23, 26 September 2012
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| The basic EPACTS command for single variant tests is: | | The basic EPACTS command for single variant tests is: |
− | <pre>perl epacts.pl single -vcf [INPUT VCF FILENAME] -ped [INPUT PED FILENAME] -out [OUTPUT FILENAME PREFIX] -test b.score -pheno DISEASE -cov AGE -sepchr -anno -min-mac 1 -run 10 | + | <pre>epacts2/epacts single -vcf [INPUT VCF FILENAME] -ped [INPUT PED FILENAME] -out [OUTPUT FILENAME PREFIX] -test b.score -pheno DISEASE -cov AGE -sepchr -anno -min-mac 1 -run 10 |
| </pre> | | </pre> |
| This command will run single variant analysis using the score test logistic regression on the DISEASE phenotype adjusting for AGE. The VCF files are separated by chromosomes (option -sepchr). All variants with at least one minor allele count will be analyzed (option -min-mac 1). It will annotate results by functional category (option -anno) and run the analysis on 10 parallel CPUs (option -run 10). | | This command will run single variant analysis using the score test logistic regression on the DISEASE phenotype adjusting for AGE. The VCF files are separated by chromosomes (option -sepchr). All variants with at least one minor allele count will be analyzed (option -min-mac 1). It will annotate results by functional category (option -anno) and run the analysis on 10 parallel CPUs (option -run 10). |
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| To run the Firth test as well, use: | | To run the Firth test as well, use: |
− | <pre>perl epacts.pl single -vcf [INPUT VCF FILENAME] -ped [INPUT PED FILENAME] -out [OUTPUT FILENAME PREFIX] -test b.firth -pheno DISEASE -cov AGE -sepchr -anno -run 10 | + | <pre>epacts2/epacts single -vcf [INPUT VCF FILENAME] -ped [INPUT PED FILENAME] -out [OUTPUT FILENAME PREFIX] -test b.firth -pheno DISEASE -cov AGE -sepchr -anno -run 10 |
| </pre> | | </pre> |
| + | Note that the Firth bias-corrected test is more computationally intensive than the score test. |
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| For detailed description of options, use: | | For detailed description of options, use: |
− | <pre>perl epacts.pl single -man | + | <pre>epacts2/epacts.pl single -help |
− | </pre> | + | </pre> |
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| == 5. Report association results in appropriate format<br> == | | == 5. Report association results in appropriate format<br> == |
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