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feat: upgrade clinvar-this for new ClinVar XML format (#72)
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holtgrewe committed May 27, 2024
1 parent 1bda1ba commit 1547249
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Showing 7 changed files with 18 additions and 18 deletions.
6 changes: 3 additions & 3 deletions .github/actions/acmg-class-by-freq/action.yml
Original file line number Diff line number Diff line change
Expand Up @@ -25,7 +25,7 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/acmg-class-by-freq
key: acmg-class-by-freq-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: acmg-class-by-freq-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
lookup-only: true

- name: Create requirements.txt
Expand All @@ -50,15 +50,15 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/acmg-class-by-freq
key: acmg-class-by-freq-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: acmg-class-by-freq-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output

- name: Retrieve cached ClinVar JSONL file
if: |
(steps.check-cache-acmg-class-by-freq-output.outputs.cache-hit != 'true')
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/convert-clinvar
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
fail-on-cache-miss: true

- name: Run the ACMG class by freq. generation
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4 changes: 2 additions & 2 deletions .github/actions/convert-clinvar/action.yml
Original file line number Diff line number Diff line change
Expand Up @@ -25,7 +25,7 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/convert-clinvar
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
lookup-only: true

- name: Create requirements.txt
Expand All @@ -50,7 +50,7 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/convert-clinvar
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output

- name: Retrieve cached ClinVar file
if: |
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4 changes: 2 additions & 2 deletions .github/actions/convert-clinvar/run.sh
Original file line number Diff line number Diff line change
Expand Up @@ -11,8 +11,8 @@ df -h
clinvar-this data xml-to-jsonl \
${CLINVAR_DIR}/ClinVarFullRelease_00-latest_weekly.xml.gz \
${OUTPUT_DIR}/convert-clinvar/clinvar-full-release.jsonl.gz \
$(if [[ "$MAX_RCVS" != "" ]] && [[ "$MAX_RCVS" != "0" ]]; then \
echo --max-records $MAX_RCVS;
$(if [[ "$MAX_RECORDS" != "" ]] && [[ "$MAX_RECORDS" != "0" ]]; then \
echo --max-records $MAX_RECORDS;
fi)


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6 changes: 3 additions & 3 deletions .github/actions/extract-vars/action.yml
Original file line number Diff line number Diff line change
Expand Up @@ -25,7 +25,7 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/extract-vars
key: extract-vars-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: extract-vars-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
lookup-only: true

- name: Create requirements.txt
Expand All @@ -50,15 +50,15 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/extract-vars
key: extract-vars-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: extract-vars-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output

- name: Retrieve cached ClinVar JSONL file
if: |
(steps.check-cache-extract-vars-output.outputs.cache-hit != 'true')
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/convert-clinvar
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
fail-on-cache-miss: true

- name: Run the variant extraction generation
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6 changes: 3 additions & 3 deletions .github/actions/gene-variant-report/action.yml
Original file line number Diff line number Diff line change
Expand Up @@ -25,7 +25,7 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/gene-variant-report
key: gene-variant-report-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: gene-variant-report-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
lookup-only: true

- name: Create requirements.txt
Expand All @@ -50,15 +50,15 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/gene-variant-report
key: gene-variant-report-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: gene-variant-report-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output

- name: Retrieve cached ClinVar JSONL file
if: |
(steps.check-cache-gene-variant-report-output.outputs.cache-hit != 'true')
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/convert-clinvar
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
fail-on-cache-miss: true

- name: Run the gene variant report generation
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6 changes: 3 additions & 3 deletions .github/actions/phenotype-links/action.yml
Original file line number Diff line number Diff line change
Expand Up @@ -25,7 +25,7 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/phenotype-links
key: phenotype-links-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: phenotype-links-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
lookup-only: true

- name: Create requirements.txt
Expand All @@ -50,15 +50,15 @@ runs:
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/phenotype-links
key: phenotype-links-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: phenotype-links-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output

- name: Retrieve cached ClinVar JSONL file
if: |
(steps.check-cache-phenotype-links-output.outputs.cache-hit != 'true')
uses: actions/cache@v3
with:
path: ${{ env.OUTPUT_DIR }}/convert-clinvar
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RCVS }}-output
key: convert-clinvar-${{ env.CACHE_SEED }}-${{ steps.get-clinvar.outputs.release-name }}-${{ env.CLINVAR_THIS_VERSION }}-${{ env.MAX_RECORDS }}-output
fail-on-cache-miss: true

- name: Run the phenotype links generation
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4 changes: 2 additions & 2 deletions .github/workflows/-build-artifacts.yml
Original file line number Diff line number Diff line change
Expand Up @@ -29,8 +29,8 @@ env:
CLINVAR_THIS_VERSION: "0.14.3"
# Helper to get unique cache keys
CACHE_SEED: "0"
# Maximal number of RCVs to process (0 = no limit).
MAX_RCVS: "0"
# Maximal number of records to process (0 = no limit).
MAX_RECORDS: "0"
# Lower verbosity of TQDM progress bar
TQDM_MININTERVAL: "5"

Expand Down

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