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, 22:51, 5 July 2011
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| perl $(UMAKE_HOME)/scripts/umake.pl --conf [conf.file] --beagle | | perl $(UMAKE_HOME)/scripts/umake.pl --conf [conf.file] --beagle |
| perl $(UMAKE_HOME)/scripts/umake.pl --conf [conf.file] --thunder | | perl $(UMAKE_HOME)/scripts/umake.pl --conf [conf.file] --thunder |
| + | perl $(UMAKE_HOME)/scripts/umake.pl --conf [conf.file] --extract |
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− | == Exercise with Example Resouces | + | == Exercise with Example Resources |
| Example input files can be downloaded at [http://www.sph.umich.edu/csg/kang/umake/ UMAKE Download]. These example resource files includs sequence alignment files over 60 individuals from the 1000 Genomes project, focusing on 300kb region in chromosome 20. Note that the reference genome FASTA file has also been modified to use chromosome 20 only. | | Example input files can be downloaded at [http://www.sph.umich.edu/csg/kang/umake/ UMAKE Download]. These example resource files includs sequence alignment files over 60 individuals from the 1000 Genomes project, focusing on 300kb region in chromosome 20. Note that the reference genome FASTA file has also been modified to use chromosome 20 only. |
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| Let <code>UMAKE_HOME</code> be the path to the UMAKE package and <code>EXAMPLE_HOME</code> be the path to the example resource files. | | Let <code>UMAKE_HOME</code> be the path to the UMAKE package and <code>EXAMPLE_HOME</code> be the path to the example resource files. |
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− | # First, modify <code>UMAKE_ROOT, INPUT_ROOT, OUTPUT_ROOT</code> parameters accordingly.
| + | * First, modify <code>UMAKE_ROOT, INPUT_ROOT, OUTPUT_ROOT</code> parameters accordingly. |
− | # Second, perform SNP calling procedure using the following command
| + | * Second, perform SNP calling procedure using the following command |
| perl $(UMAKE_HOME)/scripts/umake.pl --snpcall | | perl $(UMAKE_HOME)/scripts/umake.pl --snpcall |
− | # Third, run BEAGLE genotype refinement using the
| + | * Third, run BEAGLE genotype refinement using the |
| perl $(UMAKE_HOME)/scripts/umake.pl --beagle | | perl $(UMAKE_HOME)/scripts/umake.pl --beagle |
− | # Finally, run BEAGLE/THUNDER genotype refinement using the
| + | * Finally, run BEAGLE/THUNDER genotype refinement using the |
| perl $(UMAKE_HOME)/scripts/umake.pl --thunder | | perl $(UMAKE_HOME)/scripts/umake.pl --thunder |
− | | + | * If SNP site is already defined, instead of --snpcall option, you can extract the genotype likelihood using the following command |
| + | perl $(UMAKE_HOME)/scripts/umake.pl --extract |
| + | |
| == Preparing Your Own Input Files == | | == Preparing Your Own Input Files == |
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