diff --git a/.bumpversion.cfg b/.bumpversion.cfg index d002be0e..08d08fd7 100644 --- a/.bumpversion.cfg +++ b/.bumpversion.cfg @@ -1,5 +1,5 @@ [bumpversion] -current_version = 3.2.0 +current_version = 3.2.1 commit = True tag = False diff --git a/.github/workflows/clinvar_runner.yaml b/.github/workflows/clinvar_runner.yaml index 096fa0e7..1c3e051e 100644 --- a/.github/workflows/clinvar_runner.yaml +++ b/.github/workflows/clinvar_runner.yaml @@ -32,5 +32,5 @@ jobs: curl --fail --silent --show-error -X POST \ -H "Authorization: Bearer $TOKEN" \ -H "Content-Type:application/json" \ - -d '{"output": "generate_clinvar_${{ steps.date.outputs.date }}", "dataset": "talos", "accessLevel": "full", "repo": "automated-interpretation-pipeline", "commit": "${{ github.sha }}", "cwd": "reanalysis", "script": ["./clinvar_runner.py"], "description": "Generate Latest Clinvar Summaries", "image": "australia-southeast1-docker.pkg.dev/cpg-common/images/cpg_aip:3.2.0", "config": {"workflow": {"sequencing_type": "genome"}, "cohorts": {"talos": {"clinvar_filter": ["victorian clinical genetics services, murdoch childrens research institute"]}}}, "wait": false}' \ + -d '{"output": "generate_clinvar_${{ steps.date.outputs.date }}", "dataset": "talos", "accessLevel": "full", "repo": "automated-interpretation-pipeline", "commit": "${{ github.sha }}", "cwd": "reanalysis", "script": ["./clinvar_runner.py"], "description": "Generate Latest Clinvar Summaries", "image": "australia-southeast1-docker.pkg.dev/cpg-common/images/cpg_aip:3.2.1", "config": {"workflow": {"sequencing_type": "genome"}, "cohorts": {"talos": {"clinvar_filter": ["victorian clinical genetics services, murdoch childrens research institute"]}}}, "wait": false}' \ https://server-a2pko7ameq-ts.a.run.app diff --git a/.github/workflows/docker.yaml b/.github/workflows/docker.yaml index 3033c5f9..b4363c0e 100644 --- a/.github/workflows/docker.yaml +++ b/.github/workflows/docker.yaml @@ -14,7 +14,7 @@ permissions: contents: read env: - VERSION: 3.2.0 + VERSION: 3.2.1 jobs: docker: diff --git a/reanalysis/hail_filter_sv.py b/reanalysis/hail_filter_sv.py index 365336aa..7502ef9f 100644 --- a/reanalysis/hail_filter_sv.py +++ b/reanalysis/hail_filter_sv.py @@ -126,6 +126,28 @@ def rearrange_filters(mt: hl.MatrixTable) -> hl.MatrixTable: ) +def fix_hemi_calls(mt: hl.MatrixTable) -> hl.MatrixTable: + """ + Hail's MT -> VCF export doesn't handle hemizygous calls + adjust the relevant single allele calls to a biallelic representation + going with Hom-Alt/Hom-Ref + + if GT == 1, recast as [1, 1] + if GT == 0, recast as [0, 0] + + Args: + mt (): + """ + + return mt.annotate_entries( + GT=hl.if_else( + mt.GT.is_diploid(), + mt.GT, + hl.if_else(mt.GT.is_non_ref(), hl.call(1, 1), hl.call(0, 0)), + ) + ) + + def main( mt_path: str, panelapp_path: str, @@ -186,6 +208,9 @@ def main( # filter to labelled entries mt = mt.filter_rows(mt.info.categorybooleansv1 == ONE_INT) + # Hail's MT -> VCF export doesn't handle hemizygous calls + mt = fix_hemi_calls(mt) + # now write that badboi hl.export_vcf(mt, vcf_out, tabix=True) diff --git a/reanalysis/reanalysis_global.toml b/reanalysis/reanalysis_global.toml index 71eeca67..a52c48d4 100644 --- a/reanalysis/reanalysis_global.toml +++ b/reanalysis/reanalysis_global.toml @@ -71,7 +71,7 @@ default_memory = 'highmem' [images] gatk = 'australia-southeast1-docker.pkg.dev/cpg-common/images/gatk:4.2.6.1' -aip = 'australia-southeast1-docker.pkg.dev/cpg-common/images/cpg_aip:3.2.0' +aip = 'australia-southeast1-docker.pkg.dev/cpg-common/images/cpg_aip:3.2.1' vep_110 = "australia-southeast1-docker.pkg.dev/cpg-common/images/vep_110:release_110.1" cpg_workflows = "australia-southeast1-docker.pkg.dev/cpg-common/images/cpg_workflows:latest" diff --git a/reanalysis/version.py b/reanalysis/version.py index b831caf6..ee1e6133 100644 --- a/reanalysis/version.py +++ b/reanalysis/version.py @@ -3,4 +3,4 @@ """ # Do not edit this file manually -__version__ = '3.2.0' +__version__ = '3.2.1' diff --git a/setup.py b/setup.py index 3f786524..bb9c3530 100644 --- a/setup.py +++ b/setup.py @@ -31,7 +31,7 @@ def read_reqs(filename: str) -> list[str]: name='automated-interpretation-pipeline', description='CPG Variant Prioritisation', long_description=readme, - version='3.2.0', + version='3.2.1', author='Matthew Welland, CPG', author_email=( 'matthew.welland@populationgenomics.org.au, '