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vcf

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LUYAO REN 4 年之前
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4e5d589418
共有 3 個檔案被更改,包括 43 行新增5 行删除
  1. +13
    -2
      inputs
  2. +2
    -3
      tasks/final_merge.wdl
  3. +28
    -0
      workflow.wdl

+ 13
- 2
inputs 查看文件

@@ -1,17 +1,28 @@
{
"{{ project_name }}.LCL5_vcf": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL5.voted.mendelian.vcf.gz",
"{{ project_name }}.LCL8_callable_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL8.consensus.merged.bed",
"{{ project_name }}.LCL6_variants_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL6.variants.bed",
"{{ project_name }}.LCL6_vcf_idx": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL6.voted.mendelian.vcf.gz.tbi",
"{{ project_name }}.LCL5_variants_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL5.variants.bed",
"{{ project_name }}.LCL8_HR_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL8.27.homo_ref.consensus.bed",
"{{ project_name }}.disk_size": "150",
"{{ project_name }}.LCL7_variants_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL7.variants.bed",
"{{ project_name }}.LCL7_callable_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL7.consensus.merged.bed",
"{{ project_name }}.filter_vcf.docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/rtg-hap:latest",
"{{ project_name }}.docker": "registry-internal.cn-shanghai.aliyuncs.com/pgx-docker-registry/bedtools:v2.27.1",
"{{ project_name }}.LCL5_HR_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL5.27.homo_ref.consensus.bed",
"{{ project_name }}.LCL6_vcf": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL6.voted.mendelian.vcf.gz",
"{{ project_name }}.LCL7_HR_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL7.27.homo_ref.consensus.bed",
"{{ project_name }}.LCL5_callable_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL5.consensus.merged.bed",
"{{ project_name }}.LCL7_vcf": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL7.voted.mendelian.vcf.gz",
"{{ project_name }}.LCL6_callable_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL6.consensus.merged.bed",
"{{ project_name }}.LCL5_vcf_idx": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL5.voted.mendelian.vcf.gz.tbi",
"{{ project_name }}.PMRA_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/annotated.notValidatedIGV.vcf.bed",
"{{ project_name }}.LCL8_variants_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL8.variants.bed",
"{{ project_name }}.cluster_config": "OnDemand bcs.a2.large img-ubuntu-vpc",
"{{ project_name }}.LCL6_HR_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL6.27.homo_ref.consensus.bed"
}
"{{ project_name }}.LCL8_vcf_idx": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL8.voted.mendelian.vcf.gz.tbi",
"{{ project_name }}.LCL8_vcf": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL8.voted.mendelian.vcf.gz",
"{{ project_name }}.LCL7_vcf_idx": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL7.voted.mendelian.vcf.gz.tbi",
"{{ project_name }}.LCL6_HR_bed": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/LCL6.27.homo_ref.consensus.bed",
"{{ project_name }}.bed_10X": "oss://pgx-result/renluyao/manuscript_v3.0/benchmark_region/dat/linked.10x.26559.removed.vcf.bed"
}

+ 2
- 3
tasks/final_merge.wdl 查看文件

@@ -3,7 +3,7 @@ task final_merge {
File callable_merged_intersect_bed
File HR_merged_intersect_bed
File variants_merged_bed
File 10X_bed
File bed_10X
File PMRA_bed
String docker
String disk_size
@@ -16,7 +16,7 @@ task final_merge {

/opt/ccdg/bedtools-2.27.1/bin/bedtools intersect -a variant_invariant.bed -b ${callable_merged_intersect_bed} > benchmark_regions.bed

cat ${10X_bed} ${PMRA_bed} | cut -f1,14,15 | sort -k1,1 -k2,2n > false.positive.bed
cat ${bed_10X} ${PMRA_bed} | cut -f1,14,15 | sort -k1,1 -k2,2n > false.positive.bed

/opt/ccdg/bedtools-2.27.1/bin/bedtools subtract -a benchmark_regions.bed -b false.positive.bed > benchmark_regions.filtered.bed

@@ -31,7 +31,6 @@ task final_merge {

output {
File variant_invariant = "variant_invariant.bed"

File benchmark_region = "benchmark_regions.filtered.bed"
}
}

+ 28
- 0
workflow.wdl 查看文件

@@ -2,6 +2,7 @@ import "./tasks/callable_loci.wdl" as callable_loci
import "./tasks/final_merge.wdl" as final_merge
import "./tasks/homo_bed.wdl" as homo_bed
import "./tasks/variant_bed.wdl" as variant_bed
import "./tasks/filter_vcf.wdl" as filter_vcf



@@ -19,6 +20,16 @@ workflow {{ project_name }} {
File LCL6_variants_bed
File LCL7_variants_bed
File LCL8_variants_bed
File bed_10X
File PMRA_bed
File LCL5_vcf
File LCL6_vcf
File LCL7_vcf
File LCL8_vcf
File LCL5_vcf_idx
File LCL6_vcf_idx
File LCL7_vcf_idx
File LCL8_vcf_idx
String docker
String disk_size
String cluster_config
@@ -61,10 +72,27 @@ workflow {{ project_name }} {
callable_merged_intersect_bed=callable_loci.callable_merged_intersect_bed,
HR_merged_intersect_bed=homo_bed.HR_merged_intersect_bed,
variants_merged_bed=variant_bed.variants_merged_bed,
bed_10X=bed_10X,
PMRA_bed=PMRA_bed,
docker=docker,
disk_size=disk_size,
cluster_config=cluster_config
}

call filter_vcf.filter_vcf as filter_vcf {
input:
benchmark_region=final_merge.benchmark_region,
LCL5_vcf=LCL5_vcf,
LCL6_vcf=LCL6_vcf,
LCL7_vcf=LCL7_vcf,
LCL8_vcf=LCL8_vcf,
LCL5_vcf_idx=LCL5_vcf_idx,
LCL6_vcf_idx=LCL6_vcf_idx,
LCL7_vcf_idx=LCL7_vcf_idx,
LCL8_vcf_idx=LCL8_vcf_idx,
disk_size=disk_size,
cluster_config=cluster_config
}

}


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