Last active
March 17, 2020 13:26
-
-
Save wenjie1991/060833f2c141417cb2a312e566e91b10 to your computer and use it in GitHub Desktop.
Joint variation calling
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
## Variant call | |
## Input files | |
gatk_jar=gatk3.jar # https://console.cloud.google.com/storage/browser/gatk-software/package-archive/gatk/?pli=1 | |
refseq=genome.fa | |
rmdupN=normal.bam ## aligned & duplication removed bam file | |
rmdupP1=primary1.bam | |
rmdupP2=primary2.bam | |
rmdupM1=metastasis1.bam | |
rmdupM2=metastasis2.bam | |
# rmdupM3=metastasis3.bam ## You can add more files | |
vcf_raw=output.vcf | |
## Run the joint Variant Calling | |
java -Xmx70G -jar $gatk_jar -T UnifiedGenotyper \ | |
-nt 10 \ | |
-R $refseq \ | |
-I $rmdupN \ ## Normal | |
-I $rmdupP1 \ ## Primary1 | |
-I $rmdupP2 \ ## Primary2 | |
-I $rmdupM1 \ ## Metastasis1 | |
-I $rmdupM2 \ ## Metastasis2 | |
-o $vcf_raw \ | |
-glm BOTH \ | |
--min_base_quality_score 15 \ | |
--min_indel_count_for_genotyping 2 \ | |
--min_indel_fraction_per_sample 0.05 \ | |
--output_mode EMIT_VARIANTS_ONLY \ | |
--sample_ploidy 2 \ | |
--standard_min_confidence_threshold_for_calling 10.0 \ | |
--standard_min_confidence_threshold_for_emitting 10.0 |
Sign up for free
to join this conversation on GitHub.
Already have an account?
Sign in to comment