version = "4.2.0.0" container_url = "broadinstitute/gatk:${version}" process variant_calling { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(bam), path(bai) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T HaplotypeCaller \ -nct ${task.cpus} \ -R ${fasta} \ -I ${bam} \ -o ${file_id}.vcf """ } process filter_snp { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_snp.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T SelectVariants \ -nct ${task.cpus} \ -R ${fasta} \ -V ${vcf} \ -selectType SNP \ -o ${file_id}_snp.vcf """ } process filter_indels { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_indel.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G"-T SelectVariants \ -nct ${task.cpus} \ -R ${fasta} \ -V ${vcf} \ -selectType INDEL \ -o ${file_id}_indel.vcf """ } high_confidence_snp_filter = "(QD < 2.0) || (FS > 60.0) || (MQ < 40.0) || (MQRankSum < -12.5) || (ReadPosRankSum < -8.0) || (SOR > 4.0)" process high_confidence_snp { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_snp.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G"-T VariantFiltration \ -nct ${task.cpus} \ -R ${fasta} \ -V ${vcf} \ --filterExpression "${high_confidence_snp_filter}" \ --filterName "basic_snp_filter" \ -o ${file_id}_filtered_snp.vcf """ } high_confidence_indel_filter = "QD < 3.0 || FS > 200.0 || ReadPosRankSum < -20.0 || SOR > 10.0" process high_confidence_indels { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_indel.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T VariantFiltration \ -nct ${task.cpus} \ -R ${fasta} \ -V ${vcf} \ --filterExpression "${high_confidence_indel_filter}" \ --filterName "basic_indel_filter" \ -o ${file_id}_filtered_indel.vcf """ } process recalibrate_snp_table { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(snp_file), path(indel_file), path(bam), path(bam_idx) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("recal_data_table"), emit: recal_table script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T BaseRecalibrator \ -nct ${task.cpus} \ -R ${fasta} \ -I ${bam} \ -knownSites ${snp_file} \ -knownSites ${indel_file} \ -o recal_data_table """ } process recalibrate_snp { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(snp_file), path(indel_file), path(bam), path(bam_idx) tuple val(table_id), path(recal_data_table) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*.bam"), emit: bam script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T PrintReads \ --use_jdk_deflater \ --use_jdk_inflater \ -nct ${task.cpus} \ -R ${fasta} \ -I ${bam} \ -BQSR recal_data_table \ -o ${file_id}_recal.bam """ } process haplotype_caller { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(bam) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*.gvcf"), emit: gvcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T HaplotypeCaller \ -nct ${task.cpus} \ -R ${fasta} \ -I ${bam} \ -ERC GVCF \ -variant_index_type LINEAR -variant_index_parameter 128000 \ -o ${file_id}.gvcf """ } process gvcf_genotyping { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(gvcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T GenotypeGVCFs \ -nct ${task.cpus} \ -R ${fasta} \ -V ${gvcf} \ -o ${file_id}_joint.vcf """ } process select_variants_snp { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_joint_snp.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}GG" -T SelectVariants \ -nct ${task.cpus} \ -R ${fasta} \ -V ${vcf} \ -selectType SNP \ -o ${file_id}_joint_snp.vcf """ } process select_variants_indels { container = "${container_url}" label "big_mem_multi_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_joint_indel.vcf"), emit: vcf script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T SelectVariants \ -nct ${task.cpus} \ -R ${fasta} \ -V ${vcf} \ -selectType INDEL \ -o ${file_id}_joint_indel.vcf """ } process personalized_genome { container = "${container_url}" label "big_mem_mono_cpus" tag "$file_id" input: tuple val(file_id), path(vcf) tuple val(ref_id), path(fasta), path(fai), path(dict) output: tuple val(file_id), path("*_genome.fasta"), emit: fasta script: xmx_memory = task.memory - ~/\s*GB/ """ gatk --java-options "-Xmx${xmx_memory}G" -T FastaAlternateReferenceMaker\ -R ${reference} \ -V ${vcf} \ -o ${file_id[0]}_genome.fasta """ }