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@@ -9,9 +9,14 @@ Mako is a bottom-up guided model-free CSV detection tool. It first builds a muta | |
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Please check the [wiki](https://github.com/xjtu-omics/Mako/wiki) page for more details. | ||
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## License | ||
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SVision is free for non-commercial use by academic, government, and non-profit/not-for-profit institutions. A commercial version of the software is available and licensed through Xi’an Jiaotong University. | ||
For more information, please contact with Jiadong Lin ([email protected]) or Kai Ye ([email protected]). | ||
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## Install and run | ||
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Mako requires Java JDK (>=1.8), we provide a prebuilt JAR package **Mako.jar** for directly usage. See [Release](https://github.com/jiadong324/Mako/releases). | ||
Mako requires Java JDK (>=1.8), we provide a prebuilt JAR package **Mako.jar** for directly usage. | ||
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**NOTE:** All results from the paper is made by **Mako.jar**, which is the beta version release. | ||
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@@ -27,19 +32,23 @@ Mako requires Java JDK (>=1.8), we provide a prebuilt JAR package **Mako.jar** f | |
``` | ||
# Configuration | ||
python ParseMako.py config -b sample.bam -n 30000 -w ./working_dir/ -s sampleName -f /path/to/ref.fa.fai | ||
``` | ||
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``` | ||
# Detection | ||
java -jar Mako.jar -R /path/to/ref.fa -F /path/to/sampleName.mako.cfg | ||
``` | ||
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# Convert to VCF format | ||
``` | ||
# Convert to VCF format (optional) | ||
python ParseMako.py tovcf -m sampleName_mako_calls.txt -o sampleName_mako.vcf -r /path/to/ref.fa -s sampleName | ||
``` | ||
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### Run demo data | ||
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``` | ||
# Create configuration file | ||
python /path/to/process.py config -b NA19240.30X.chr20.1000K-2000K.bam -N 30000 -w ./working_dir/ -s NA19240 -f /ref.fa.fai | ||
python ParseMako.py config -b NA19240.30X.chr20.1000K-2000K.bam -n 30000 -w ./working_dir/ -s NA19240 -f /demo.fa.fai | ||
# Run Mako | ||
java -jar /path/to/Mako.jar -R /path/to/GRCh38_full_analysis_set_plus_decoy_hla.fa -F /path/to/NA19240.mako.cfg | ||
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