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, 21:23, 26 January 2015
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| A typical command line to phase using MaCH looks like this | | A typical command line to phase using MaCH looks like this |
| | | |
− | mach1 -d chr1.dat \ | + | mach1 -d Gwas.chr20.Unphased.dat \ |
− | -p chr1.ped \ | + | -p Gwas.chr20.Unphased.ped \ |
| --rounds 20 \ | | --rounds 20 \ |
| --states 200 \ | | --states 200 \ |
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| === SHAPEIT=== | | === SHAPEIT=== |
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− | '''SHAPEIT''' is a Markov Chain based haplotyper. It can resolve long haplotypes in samples of unrelated individuals. The source code is available for download here. Check out there [http://www.sph.umich.edu/csg/abecasis/MaCH/ home-page] for further details. | + | '''SHAPEIT''' is a fast and accurate method for estimation of haplotypes (phasing) from genotype or sequencing data. The source code is available for download here. Check out there [https://mathgen.stats.ox.ac.uk/genetics_software/shapeit/shapeit.html home-page] for further details. |
| | | |
− | A typical command line to phase using MaCH looks like this
| + | SHAPEIT can be used to phase a small number of samples (a reference panel required) as well as a large number of samples (NO reference panel required). The reference panels and genetic map files are available for download on their [https://mathgen.stats.ox.ac.uk/genetics_software/shapeit/shapeit.html home-page]. |
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− | mach1 -d chr1.dat \
| + | * The following example shows a typical SHAPEIT command line to phase a large number of GWAS samples (<code>Gwas.chr20.Unphased.vcf</code> is the quality control GWAS data set in VCF format). |
− | -p chr1.ped \
| + | |
− | --rounds 20 \
| + | shapeit -V Gwas.chr20.Unphased.vcf \ |
− | --states 200 \
| + | -M genetic_map_chr20.txt \ |
− | --phase \
| + | -O Gwas.Chr20.Phased.Output |
− | --interim 5 \
| |
− | --sample 5 \
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− | --prefix Gwas.Chr20.Phased.Output
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| = Chromosome X Imputation = | | = Chromosome X Imputation = |