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TSPS-328 add optional samples subselection to SubsetVcfByBedFile WDL #138

Merged
merged 11 commits into from
Oct 8, 2024
7 changes: 7 additions & 0 deletions .dockstore.yml
Original file line number Diff line number Diff line change
Expand Up @@ -49,3 +49,10 @@ workflows:
authors:
- name: Terra Scientific Services
email: teaspoons-developers@broadinstitute.org

- subclass: WDL
name: UpdateVcfDictionaryHeader
primaryDescriptorPath: /pipelines/imputation/scientificValidation/UpdateVcfDictionaryHeader.wdl
authors:
- name: Terra Scientific Services
email: teaspoons-developers@broadinstitute.org
28 changes: 27 additions & 1 deletion pipelines/imputation/scientificValidation/README.md
Original file line number Diff line number Diff line change
Expand Up @@ -23,13 +23,39 @@ not interact with headers or annotations mostly because
the only really "required" header is the dictionary
and that gets transferred across and the imputation
tool only look at GT and no info/format fields so
we can just leave them be and have it not affect
we can just leave them be.

This wdl can optionally additionally extract a subset of samples if the
optional input `samples_to_subselect` is provided.

#### Inputs
* input_vcf - input file to be subset
* input_vcf_index
* bed_file - bed file containing intervals to subset by
* (optional) samples_to_subselect - text file containing
newline-separated list of samples to subset the vcf by

#### Outputs
* subset_vcf - subsetted vcf
* subset_vcf_index

## UpdateVcfDictionaryHeader
### Purpose
This wdl can be used to update the dictionary header lines
(i.e. `##contigs=` lines) in a vcf file, based on a supplied
dictionary file. This is useful when the contigs in the vcf
file do not match the contigs in the reference panel used
for imputation. The optional input `disable_sequence_dictionary_validation`,
by default set to true, checks the contigs in the input vcf file and
throws an error if they are not valid. If set to false, the contigs
in the input vcf file are not checked.

#### Inputs
* input_vcf - input vcf file
* input_vcf_index
* dictionary_file - dictionary file to use for updating the vcf header;
we usually use `gs://gcp-public-data--broad-references/hg38/v0/Homo_sapiens_assembly38.dict`.

#### Outputs
* output_vcf - reheadered vcf file
* output_vcf_index
Original file line number Diff line number Diff line change
Expand Up @@ -5,13 +5,15 @@ workflow SubsetVcfByBedFile {
input {
File input_vcf
File input_vcf_index
File? samples_to_subselect
File bed_file
}

call BcftoolsSubsetVcf {
input:
input_vcf = input_vcf,
input_vcf_index = input_vcf_index,
samples_to_subselect = samples_to_subselect,
bed_file = bed_file
}

Expand All @@ -25,6 +27,7 @@ task BcftoolsSubsetVcf {
input {
File input_vcf
File input_vcf_index
File? samples_to_subselect
File bed_file

Int disk_size_gb = ceil(3 * size(input_vcf, "GiB")) + 20
Expand All @@ -41,6 +44,7 @@ task BcftoolsSubsetVcf {
-R ~{bed_file} \
-O z \
-o ~{basename}.subset.vcf.gz \
~{" --samples-file " + samples_to_subselect} \
~{input_vcf}

bcftools index -t ~{basename}.subset.vcf.gz
Expand Down
Original file line number Diff line number Diff line change
@@ -0,0 +1,69 @@
version 1.0

# This script is under review. It is not actively tested or maintained at this time.
workflow UpdateVcfDictionaryHeader {
input {
File input_vcf
File input_vcf_index
File ref_dict
}

call UpdateVcfDictionaryHeader {
input:
vcf = input_vcf,
vcf_index = input_vcf_index,
ref_dict = ref_dict,
basename = basename(input_vcf, '.vcf.gz')
}

output {
File output_vcf = UpdateVcfDictionaryHeader.output_vcf
File output_vcf_index = UpdateVcfDictionaryHeader.output_vcf_index
}
}

task UpdateVcfDictionaryHeader {
input {
File vcf
File vcf_index
File ref_dict
String basename
Boolean disable_sequence_dictionary_validation = true

Int disk_size_gb = ceil(4*(size(vcf, "GiB") + size(vcf_index, "GiB"))) + 20
String gatk_docker = "us.gcr.io/broad-gatk/gatk:4.5.0.0"
Int cpu = 1
Int memory_mb = 6000
Int preemptible = 0
}
Int command_mem = memory_mb - 1500
Int max_heap = memory_mb - 1000

String disable_sequence_dict_validation_flag = if disable_sequence_dictionary_validation then "--disable-sequence-dictionary-validation" else ""

command <<<
set -e -o pipefail

ln -sf ~{vcf} input.vcf.gz
ln -sf ~{vcf_index} input.vcf.gz.tbi

## update the header of the merged vcf
gatk --java-options "-Xms~{command_mem}m -Xmx~{max_heap}m" \
UpdateVCFSequenceDictionary \
--source-dictionary ~{ref_dict} \
--output ~{basename}.vcf.gz \
--replace -V input.vcf.gz \
~{disable_sequence_dict_validation_flag}
>>>
runtime {
docker: gatk_docker
disks: "local-disk ${disk_size_gb} HDD"
memory: "${memory_mb} MiB"
cpu: cpu
preemptible: preemptible
}
output {
File output_vcf = "~{basename}.vcf.gz"
File output_vcf_index = "~{basename}.vcf.gz.tbi"
}
}
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