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, 21:43, 26 January 2015
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| 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]. | | 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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− | * 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). | + | * The following example shows a typical SHAPEIT command line to phase a LARGE number (>200) of GWAS samples (<code>Gwas.chr20.Unphased.vcf</code> is the quality control GWAS data set in VCF format). |
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| shapeit -V Gwas.chr20.Unphased.vcf \ | | shapeit -V Gwas.chr20.Unphased.vcf \ |
| -M genetic_map_chr20.txt \ | | -M genetic_map_chr20.txt \ |
| + | -O Gwas.Chr20.Phased.Output |
| + | |
| + | * The following example shows a typical SHAPEIT command line to phase a SMALL number (<200) of GWAS samples (<code>Gwas.chr20.Unphased.vcf</code> is the quality control GWAS data set in VCF format). |
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| + | ## The following step splits out variants mis-aligned between the reference and target/gwas panel |
| + | shapeit -check \ |
| + | -V Gwas.chr20.Unphased.vcf\ |
| + | -M genetic_map_chr20.txt \ |
| + | --input-ref reference.haplotypes.gz reference.legend.gz reference.sample \ |
| + | --output-log gwas.alignments |
| + | ## The following step phases target/gwas panel using the reference panel while excluding the markers found in the step above. |
| + | shapeit -B gwas \ |
| + | -V Gwas.chr20.Unphased.vcf \ |
| + | --input-ref reference.haplotypes.gz reference.legend.gz reference.sample \ |
| + | --exclude-snp gwas.alignments.strand.exclude \ |
| -O Gwas.Chr20.Phased.Output | | -O Gwas.Chr20.Phased.Output |
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