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Genomes on the Cloud, Mapping & Variant Calling Pipelines
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#====================================================================== # GotCloud README #====================================================================== See http://genome.sph.umich.edu/wiki/GotCloud for full GotCloud documentation. #---------------------------------------------------------------------- # Build GotCloud #---------------------------------------------------------------------- Before running GotCloud, you need to compile the source: cd src/; make; cd .. #---------------------------------------------------------------------- # Test GotCloud #---------------------------------------------------------------------- To test the GotCloud aligner, run: gotcloud align --test ~/testalign This will create/clear the output directory ~/testalign. Test results and a log file are put in this directory. Results are self-checked and if errors should occur, it will be obvious. To test the GotCloud umake, run: gotcloud snpcall --test ~/testsnp This will create/clear the output directory ~/testsnp. Test results and a log file are put in this directory. Results are self-checked and if errors should occur, it will be obvious. #---------------------------------------------------------------------- # General Help for Variant Calling #---------------------------------------------------------------------- Variant Calling requires three types of input files: (1) a set of BAM files For high quality SNP calls BAM files should already be: * duplicate-marked * base-quality recalibrated (2) index file Each line contains at least 3 space-separated columns representing a single individual: [SAMPLE_ID] [COMMA SEPARATED POPULATION LABELS] [BAM_FILE1] [BAM_FILE2] ... 1 or more BAMs are allowed per individual (3) configuration file Contains run-time options & command line arguments. A default configuration is provided. User must specify: * BAM_INDEX = # the path/name of the index file * OUT_DIR Optional specifications... * CHRS = #space separated list of chromosomes - defaults to 1-22 & X Refer to the default configuration & the wiki page for more information on other settings. * http://genome.sph.umich.edu/wiki/GotCloud:_Variant_Calling_Pipeline#Configuration_File Optional input files: * Pedigree files (PED format) (to specify gender information in chrX calling) * Target information (UCSC's BED format) in targeted or whole exome capture sequencing Once these files are configured, to run snp calling and process the data: {path}gotcloud snpcall --conf {conf_file} \ --outdir {output_directory} --numjobs {# of threads to use for processing}
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