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, 17:14, 30 January 2013
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| A convenient way to haplotype your sample is to use MaCH. A typical MaCH command line to estimate phased haplotypes might look like this: | | A convenient way to haplotype your sample is to use MaCH. A typical MaCH command line to estimate phased haplotypes might look like this: |
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− | mach1 -d chr1.dat -p chr1.ped --rounds 20 --states 200 --phase --interim 5 --sample 5 --prefix chr$chr.haps
| + | ./mach1 -d sample.dat -p sample.ped --rounds 20 --states 50 --phase --interim 5 --sample 5 --prefix sample.pp | tee mach.log |
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| This will request that MaCH estimate haplotypes for your sample, using 20 iterations of its Markov sampler and conditioning each update on up to 200 haplotypes. A summary description of these parameters follows (but for a more complete description, you should go to the [http://www.sph.umich.edu/csg/abecasis/MaCH/ MaCH website]): | | This will request that MaCH estimate haplotypes for your sample, using 20 iterations of its Markov sampler and conditioning each update on up to 200 haplotypes. A summary description of these parameters follows (but for a more complete description, you should go to the [http://www.sph.umich.edu/csg/abecasis/MaCH/ MaCH website]): |
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| |} | | |} |
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− | You should be able to run this step in parallel and in our cluster we'd use:
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− | <source lang="text">
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− | foreach chr (`seq 1 22`)
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− | runon -m 4096 mach -d chr$chr.dat -p chr$chr.ped --rounds 20 --states 200 --phase --interim 5 --sample 5 --prefix chr$chr.haps
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− | end
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− | </source>
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| === Imputation into Phased Haplotypes - minimac === | | === Imputation into Phased Haplotypes - minimac === |
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| A typical minimac command line, where the string $chr should be replaced with an appropriate chromosome number, might look like this: | | A typical minimac command line, where the string $chr should be replaced with an appropriate chromosome number, might look like this: |
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− | == using a VCF reference panel == | + | ./minimac --refHaps hapmap.hap --refSnps hapmap.snps --haps sample.pp.gz --snps sample.snps --prefix sample.imp | tee minimac.log |
− | minimac --vcfReference --refHaps ref.vcf.gz --haps target.hap.gz --snps target.snps.gz --rounds 5 --states 200 --prefix results
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− | Note: GWAS SNPs (file --snps target.snps.gz) are by default expected to be in the chr:pos format e.g. 1:1000 and on build37/hg19;
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− | otherwise, please set the --rs flag and include an aliases file --snpAliase [http://www.sph.umich.edu/csg/abecasis/downloads/dbsnp134-merges.txt.gz dbsnp134-merges.txt.gz]
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| A detailed description of all minimac options is available [[Minimac Command Reference|elsewhere]]. Here is a brief description of the above parameters: | | A detailed description of all minimac options is available [[Minimac Command Reference|elsewhere]]. Here is a brief description of the above parameters: |
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| | Optionally, a string that is used to help generate output file names. | | | Optionally, a string that is used to help generate output file names. |
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| You can speed-up things by running minimac in parallel by launching the [http://genome.sph.umich.edu/wiki/Minimac#Multiprocessor_Version minimac-omp] version. On our cluster 4 cpus per minimac is optimal (--cpus 4). | | You can speed-up things by running minimac in parallel by launching the [http://genome.sph.umich.edu/wiki/Minimac#Multiprocessor_Version minimac-omp] version. On our cluster 4 cpus per minimac is optimal (--cpus 4). |
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− | <source lang="text">
| + | ./minimac-omp --cpus 4 --refHaps hapmap.hap --refSnps hapmap.snps --haps sample.pp.gz --snps sample.snps --prefix sample.imp | tee minimac-omp.log |
− | foreach chr (`seq 1 22`)
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− | runon -m 1024 minimac-omp --cpus 4 --refHaps ref.hap.$chr.gz --vcfReference \
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− | --haps chr$chr.haps.gz --snps chr.$chr.snps --prefix chr$chr.imputed
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− | end
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− | </source>
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