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config.yaml
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1011 lines (863 loc) · 44.5 KB
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---
work_path: ../pipeline_work
log_level: DEBUG
pool_size: 4
scratchpad:
chembl_version: '36'
efo_version: '3.83.0'
ensembl_version: '115'
gencode_version: '49'
depmap_version: '2025Q2'
hpo_version: '2025-01-16'
mondo_version: '2025-02-04'
ot_curation: '25.12.2'
probes_drugs_version: '02_2025'
gnomad_version: '4.1'
steps:
#: BIOSAMPLE STEP :###############################################################################
biosample:
- name: copy cell ontology
source: https://github.com/obophenotype/cell-ontology/releases/latest/download/cl.json
destination: input/biosample/cl.json
- name: copy uberon
source: https://github.com/obophenotype/uberon/releases/latest/download/uberon.json
destination: input/biosample/uberon.json
- name: copy efo
source: https://github.com/EBISPOT/efo/releases/download/v${efo_version}/efo.json
destination: input/biosample/efo.json
##################################################################################################
#: BASELINE_EXPRESSION_STEP :#####################################################################
baseline_expression:
- name: copy_many baseline expression
sources: gs://ot-team/tobi/baseline_expression/aggregated-new/merged/*.parquet
destination: output/baseline_expression
#################################################################################################
#: CLINICAL_REPORT STEP :########################################################################
clinical_report:
- name: explode_glob clinical_report
glob: gs://ot-team/irene/clinical_mining/2026-03-12/input/clinical_report/**/*
do:
- name: copy clinical_report ${match_stem} ${uuid}
source: ${uri}
destination: input/clinical_report/${match_path}/${match_stem}.${match_ext}
##################################################################################################
#: DISEASE STEP :#################################################################################
disease:
- name: copy efo otar_slim
source: https://github.com/EBISPOT/efo/releases/download/v${efo_version}/efo_otar_slim.json
destination: input/disease/efo_otar_slim.json
- name: copy hpo
source: https://github.com/obophenotype/human-phenotype-ontology/releases/download/v${hpo_version}/hp-full.json
destination: input/disease/hp-full.json
- name: copy hpo phenotypes
source: http://purl.obolibrary.org/obo/hp/hpoa/phenotype.hpoa
destination: input/disease/phenotype.hpoa
- name: copy mondo
# we were using v2021-12-30 release until 25.03
source: https://github.com/monarch-initiative/mondo/releases/download/v${mondo_version}/mondo.json
destination: input/disease/mondo.json
##################################################################################################
#: DRUG STEP :####################################################################################
drug:
- name: copy chemical probes
source: https://www.probes-drugs.org/media/download/probes/pd_export_${probes_drugs_version}_probes_standardized.xlsx
destination: input/target/chemicalprobes/probes.xlsx
- name: copy drugbank annotation
source: https://ftp.ebi.ac.uk/pub/databases/chembl/UniChem/data/wholeSourceMapping/src_id1/src1src2.txt.gz
destination: input/drug/drugbank.csv.gz
- name: elasticsearch chembl drug warning
url: https://www.ebi.ac.uk/chembl/elk/es
destination: input/drug/chembl_drug_warning.jsonl
index: chembl_${chembl_version}_drug_warning
fields:
- _metadata
- molecule_chembl_id
- parent_molecule_chembl_id
- efo_id
- efo_term
- efo_id_for_warning_class
- warning_class
- warning_country
- warning_description
- warning_id
- warning_refs
- warning_type
- warning_year
- name: elasticsearch chembl mechanism of action
url: https://www.ebi.ac.uk/chembl/elk/es
destination: input/drug/chembl_mechanism.jsonl
index: chembl_${chembl_version}_mechanism
fields:
- _metadata
- molecule_chembl_id
- target_chembl_id
- action_type
- mechanism_of_action
- mechanism_refs
- record_id
- parent_molecule_chembl_id
- name: elasticsearch chembl molecule
url: https://www.ebi.ac.uk/chembl/elk/es
destination: input/drug/chembl_molecule.jsonl
index: chembl_${chembl_version}_molecule
fields:
- molecule_chembl_id
- molecule_hierarchy
- molecule_type
- pref_name
- first_approval
- max_phase
- withdrawn_flag
- black_box_warning
- molecule_synonyms
- cross_references
- molecule_structures
- name: elasticsearch chembl target
url: https://www.ebi.ac.uk/chembl/elk/es
destination: input/drug/chembl_target.jsonl
index: chembl_${chembl_version}_target
fields:
- _metadata
- target_chembl_id
- target_components
- target_type
- pref_name
##################################################################################################
#: IMPC STEP :####################################################################################
impc:
- name: solr fetch gene_gene
destination: input/impc
url: http://www.ebi.ac.uk/mi/impc/solr/phenodigm/select
data_type: gene_gene
fields:
- gene_id
- hgnc_gene_id
- name: solr fetch ontology_ontology
destination: input/impc
url: http://www.ebi.ac.uk/mi/impc/solr/phenodigm/select
data_type: ontology_ontology
fields:
- mp_id
- hp_id
strict: False
- name: solr fetch mouse_model
destination: input/impc
url: http://www.ebi.ac.uk/mi/impc/solr/phenodigm/select
queries:
data_type: mouse_model
fields:
- model_id
- model_phenotypes
- name: solr fetch disease
destination: input/impc
url: http://www.ebi.ac.uk/mi/impc/solr/phenodigm/select
data_type: disease
fields:
- disease_id
- disease_phenotypes
- name: solr fetch disease_model_summary
destination: input/impc
url: http://www.ebi.ac.uk/mi/impc/solr/phenodigm/select
batch_size: 100000000
data_type: disease_model_summary
fields:
- model_id
- model_genetic_background
- model_description
- disease_id
- disease_term
- disease_model_avg_norm
- disease_model_max_norm
- marker_id
- name: solr fetch ontology
destination: input/impc
url: http://www.ebi.ac.uk/mi/impc/solr/phenodigm/select
data_type: ontology
fields:
- ontology
- phenotype_id
- phenotype_term
- name: explode impc metadata
foreach:
- MGI_Gene_Model_Coord.rpt # Mouse gene mappings
- MGI_PhenoGenoMP.rpt # Mouse PubMed references
- mp.json # Mammalian Phenotype ontology
do:
- name: copy ${each}
source: http://www.informatics.jax.org/downloads/reports/${each}
destination: input/impc/${each}
- name: copy gene name
source: https://storage.googleapis.com/public-download-files/hgnc/tsv/tsv/hgnc_complete_set.txt
destination: input/target/genenames/hgnc_complete_set.tsv
##################################################################################################
#: EVIDENCE_EXPRESSION_ATLAS STEP :###############################################################
evidence_expression_atlas:
- name: find_latest atlas
source: gs://otar010-atlas
scratchpad_key: 'latest_atlas'
- name: copy atlas
requires:
- find_latest atlas
source: ${latest_atlas}
destination: input/evidence/atlas.json.bz2
##################################################################################################
#: EVIDENCE_CANCER_BIOMARKERS STEP :##############################################################
evidence_cancer_biomarkers:
- name: copy cancer biomarkers associations
source: gs://otar000-evidence_input/CancerBiomarkers/data_files/cancerbiomarkers-2018-05-01.tsv
destination: input/evidence/cancerbiomarkers/associations.tsv
- name: copy cancer biomarkers sources
source: gs://otar000-evidence_input/CancerBiomarkers/data_files/cancer_biomarker_source.jsonl
destination: input/evidence/cancerbiomarkers/sources.jsonl
- name: copy cancer biomarkers diseases
source: gs://otar000-evidence_input/CancerBiomarkers/data_files/cancer_biomarker_disease.jsonl
destination: input/evidence/cancerbiomarkers/diseases.jsonl
##################################################################################################
#: EVIDENCE_CLINGEN STEP :########################################################################
evidence_clingen:
- name: copy clingen
source: https://search.clinicalgenome.org/kb/gene-validity/download
destination: input/evidence/clingen.csv
##################################################################################################
#: EVIDENCE_COSMIC STEP :#########################################################################
evidence_cosmic:
- name: find_latest cosmic
source: gs://otar007-cosmic
scratchpad_key: 'latest_cosmic'
- name: copy cosmic
requires:
- find_latest cosmic
source: ${latest_cosmic}
destination: input/evidence/cosmic.json.gz
##################################################################################################
#: EVIDENCE_PROJECT_SCORE STEP :##################################################################
evidence_project_score:
- name: copy sanger cell passport
source: https://cog.sanger.ac.uk/cmp/download/model_list_latest.csv.gz
destination: input/evidence/cell_passport.csv.gz
- name: copy project_score cell types
source: gs://otar000-evidence_input/CRISPR/data_files/project_score_v2/cell_types.tsv
destination: input/evidence/project_score/cell_types.tsv
- name: copy project_score gene scores
source: gs://otar000-evidence_input/CRISPR/data_files/project_score_v2/mapped_diseases.tsv
destination: input/evidence/project_score/mapped_diseases.tsv
- name: copy ot_curation depmap_tissue_mapping
source: https://raw.githubusercontent.com/opentargets/curation/${ot_curation}/mappings/biosystem/depmap_uberon_mapping.csv
destination: input/ot_curation/mappings/biosystem/depmap_uberon_mapping.csv
##################################################################################################
#: EVIDENCE_CRISPR_SCREENS STEP :#################################################################
evidence_crispr_screens:
- name: crispr_brain fetch
destination: input/evidence/crispr_screens
api_url: https://crisprbrain.org/api/screens
client_id: 92f263647c43525d3e4f181aa7e348f26e32129c0f827321d9261cc9765c56c0
study_prefix_url: https://storage.googleapis.com/crisprbrain.appspot.com/api-data/
validate_version: 1
- name: copy crispr_brain mappings
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/mappings/disease/brain_crispr_studies.tsv
destination: input/ot_curation/mappings/disease/brain_crispr_studies.tsv
##################################################################################################
#: EVIDENCE_EVA STEP :############################################################################
evidence_eva:
- name: find_latest eva
source: gs://otar012-eva/disease-target-evidence/*
scratchpad_key: 'latest_eva'
- name: copy eva
requires:
- find_latest eva
source: ${latest_eva}
destination: input/evidence/eva.json.gz
##################################################################################################
#: EVIDENCE_GENE_BURDEN STEP :####################################################################
evidence_gene_burden:
- name: copy gene_burden cvdi
source: https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-01894-5/MediaObjects/41588_2024_1894_MOESM4_ESM.xlsx
destination: input/evidence/gene_burden/cvdi.xlsx
- name: explode_glob download genebass
glob: 'gs://otar000-evidence_input/GeneBurden/data_files/genebass_entries/*.parquet'
do:
- name: copy genebass ${match_stem}
source: ${uri}
destination: input/evidence/gene_burden/genebass/${match_stem}.${match_ext}
- name: copy gene_burden finngen
source: gs://finngen-public-data-r12/lof/data/finngen_R12_lof.txt.gz
destination: input/evidence/gene_burden/finngen/finngen.txt.gz
- name: copy gene_burden finngen phenos
source: https://r12.finngen.fi/api/phenos
destination: input/evidence/gene_burden/finngen/phenos
- name: copy_many AZ parquet (quantitative)
sources: gs://otar000-evidence_input/GeneBurden/data_files/azphewas-com-470k-phewas-quantitative/*.parquet
destination: input/evidence/gene_burden/astrazeneca/azphewas-com-470k-phewas-quantitative
- name: copy_many AZ parquet (binary)
sources: gs://otar000-evidence_input/GeneBurden/data_files/azphewas-com-470k-phewas-binary/*.parquet
destination: input/evidence/gene_burden/astrazeneca/azphewas-com-470k-phewas-binary
- name: explode AZ CSVs
foreach:
- azphewas_com_genes_UK_Biobank_470k.csv
- azphewas_com_phenotypes_UK_Biobank_470k.csv
do:
- name: copy ${each}
source: gs://otar000-evidence_input/GeneBurden/data_files/${each}
destination: input/evidence/gene_burden/astrazeneca/${each}
- name: explode ot_curation files
foreach:
- mappings/disease/manual_string.tsv
- gene_burden/curated_evidence.tsv
do:
- name: copy ${each}
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/${each}
destination: input/ot_curation/${each}
##################################################################################################
#: EVIDENCE_GENE2PHENOTYPE STEP :#################################################################
evidence_gene2phenotype:
- name: copy gene2phenotype cancer
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/Cancer/download
destination: input/evidence/gene2phenotype/cancer.csv
- name: copy gene2phenotype cardiac
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/Cardiac/download
destination: input/evidence/gene2phenotype/cardiac.csv
- name: copy gene2phenotype dd
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/DD/download
destination: input/evidence/gene2phenotype/dd.csv
- name: copy gene2phenotype ear
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/Ear/download
destination: input/evidence/gene2phenotype/ear.csv
- name: copy gene2phenotype eye
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/Eye/download
destination: input/evidence/gene2phenotype/eye.csv
- name: copy gene2phenotype skeletal
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/Skeletal/download
destination: input/evidence/gene2phenotype/skeletal.csv
- name: copy gene2phenotype skin
source: https://www.ebi.ac.uk/gene2phenotype/api/panel/Skin/download
destination: input/evidence/gene2phenotype/skin.csv
##################################################################################################
#: EVIDENCE_PANEL_APP STEP :######################################################################
evidence_panel_app:
- name: copy panel_app
source: gs://otar000-evidence_input/GenomicsEngland/data_files/All_genes_20250525_public_v1plus_genes_all_ratings.tsv
destination: input/evidence/panelapp/panel_app.tsv
- name: panel_app fetch
requires:
- copy panel_app
evidence_file: input/evidence/panelapp/panel_app.tsv
api_url: https://panelapp.genomicsengland.co.uk/api/v1/panels
destination: input/evidence/panelapp/panels.jsonl
##################################################################################################
#: EVIDENCE_ORPHANET STEP :#######################################################################
evidence_orphanet:
- name: copy orphanet
source: http://www.orphadata.org/data/xml/en_product6.xml
destination: input/evidence/orphanet.xml
##################################################################################################
#: EVIDENCE_REACTOME STEP :#######################################################################
evidence_reactome:
- name: find_latest reactome
source: gs://otar006-reactome
scratchpad_key: 'latest_reactome'
- name: copy reactome
requires:
- find_latest reactome
source: ${latest_reactome}
destination: input/evidence/reactome.json.gz
##################################################################################################
#: EVIDENCE_UNIPROT_LITERATURE STEP :#############################################################
evidence_uniprot_literature:
- name: find_latest uniprot literature
source: gs://otar000-evidence_input/Uniprot_literature/json
scratchpad_key: 'latest_uniprot_literature'
- name: copy uniprot_literature
requires:
- find_latest uniprot literature
source: ${latest_uniprot_literature}
destination: input/evidence/uniprot_literature.json.gz
##################################################################################################
#: EVIDENCE_UNIPROT_VARIANTS STEP :###############################################################
evidence_uniprot_variants:
- name: find_latest uniprot_variants
source: gs://otar000-evidence_input/Uniprot_variants/json
scratchpad_key: 'latest_uniprot_variants'
- name: copy uniprot_variants
requires:
- find_latest uniprot_variants
source: ${latest_uniprot_variants}
destination: input/evidence/uniprot_variants.json.gz
##################################################################################################
#: EVIDENCE_INTOGEN STEP :#######################################################################
evidence_intogen:
- name: explode intogen files
foreach:
- Compendium_Cancer_Genes.tsv
- cohorts.tsv
do:
- name: copy ${each}
source: gs://otar000-evidence_input/IntOgen/data_files/2024.06/${each}
destination: input/evidence/intogen/${each}
- name: copy ot_curation disease_mapping
source: https://raw.githubusercontent.com/opentargets/curation/${ot_curation}/mappings/disease/cancer2EFO_mappings.tsv
destination: input/ot_curation/mappings/disease/cancer2EFO_mappings.tsv
##################################################################################################
#: EVIDENCE_PPP STEP :############################################################################
evidence_ppp:
# Validation lab => Get latest evidence.
- name: find_latest validation_lab
source: gs://otar013-ppp/validation_lab
scratchpad_key: latest_validation_lab
- name: copy validation_lab
requires:
- find_latest validation_lab
source: ${latest_validation_lab}
destination: input/evidence/validation_lab.json.gz
# Encore => Get latest evidence.
- name: find_latest encore
source: gs://otar013-ppp/encore
scratchpad_key: latest_encore
- name: copy encore
requires:
- find_latest encore
source: ${latest_encore}
destination: input/evidence/encore.json.gz
# OT_crispr => generate evience.
- name: copy ot_crispr config
source: gs://otar013-ppp/PPP-evidence-configuration/raw_study_table.tsv
destination: input/evidence/ot_crispr/config.tsv
- name: explode_glob ot_crispr files
glob: 'gs://otar013-ppp/ot_crispr/input_data_filtered/**/*'
do:
- name: copy ot_crispr ${match_stem} ${uuid}
source: ${uri}
destination: input/evidence/ot_crispr/data/${match_path}/${match_stem}.${match_ext}
##################################################################################################
#: EXPRESSION STEP :##############################################################################
expression:
- name: copy expression hierarchy
source: https://raw.githubusercontent.com/opentargets/expression_hierarchy/master/process/curation.tsv
destination: input/expression/expression_hierarchy_curation.tsv
- name: copy tissue translation map
source: https://raw.githubusercontent.com/opentargets/expression_hierarchy/master/process/map_with_efos.json
destination: input/expression/map_with_efos.json
- name: copy normal tissues
source: https://www.proteinatlas.org/download/tsv/normal_ihc_data.tsv.zip
destination: input/expression/normal_tissue.tsv.zip
- name: find_latest baseline expression binned
source: gs://atlas_baseline_expression/baseline_expression_binned
scratchpad_key: latest_baseline_expression_binned
- name: copy baseline expression binned
requires:
- find_latest baseline expression binned
source: ${latest_baseline_expression_binned}
destination: input/expression/baseline_expression_binned.tsv
- name: find_latest baseline expression counts
source: gs://atlas_baseline_expression/baseline_expression_counts
scratchpad_key: latest_baseline_expression_counts
- name: copy baseline expression counts
requires:
- find_latest baseline expression counts
source: ${latest_baseline_expression_counts}
destination: input/expression/baseline_expression_counts.tsv
- name: find_latest baseline expression zscore binned
source: gs://atlas_baseline_expression/baseline_expression_zscore_binned
scratchpad_key: latest_baseline_expression_zscore_binned
- name: copy baseline expression zscore binned
requires:
- find_latest baseline expression zscore binned
source: ${latest_baseline_expression_zscore_binned}
destination: input/expression/baseline_expression_zscore_binned.tsv
##################################################################################################
#: GO STEP :######################################################################################
go:
- name: copy gene ontology
source: http://purl.obolibrary.org/obo/go.obo
destination: input/go/go.obo
##################################################################################################
#: INTERACTION STEP :#############################################################################
interaction:
- name: copy ensembl interactions grch38
source: https://ftp.ensembl.org/pub/release-${ensembl_version}/gtf/homo_sapiens/Homo_sapiens.GRCh38.${ensembl_version}.chr.gtf.gz
destination: input/interaction/Homo_sapiens.GRCh38.chr.gtf.gz
- name: copy human 9606 idmapping
source: https://ftp.ebi.ac.uk/pub/databases/uniprot/current_release/knowledgebase/idmapping/by_organism/HUMAN_9606_idmapping.dat.gz
destination: input/interaction/HUMAN_9606_idmapping.dat.gz
- name: copy intact interactors
source: https://ftp.ebi.ac.uk/pub/databases/intact/various/ot_graphdb/current/data/interactor_pair_interactions.json
destination: input/interaction/intact-interactors.json
- name: copy rna central
source: https://ftp.ebi.ac.uk/pub/databases/RNAcentral/current_release/id_mapping/database_mappings/ensembl.tsv
destination: input/interaction/rna_central_ensembl.tsv
- name: find_latest string interactions
source: gs://otar001-core/stringInteractions
scratchpad_key: latest_string_interactions
- name: copy string interactions
requires:
- find_latest string interactions
source: ${latest_string_interactions}
destination: input/interaction/string-interactions.txt.gz
##################################################################################################
#: ENCODE STEP :##################################################################################
encode:
- name: copy chromosome contigs
source: gs://vep_cache_data/vep/cache/contig.parquet
destination: input/chromosome/chromosome.parquet
- name: copy encode rE2G biosample mapping
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/genetics/E2G_biosample_mapping.csv
destination: input/encode/rE2G/biosample_mapping.csv
- name: copy encode rE2G manifest
# NOTE: excluded samples from query have divergent schemas that do not conform to expected rE2G format
source: https://www.encodeproject.org/report.tsv?type=File&searchTerm=encode-re2g+thresholded&output_type=thresholded+element+gene+links&status=released&limit=all&accession!=ENCFF094BVF&accession!=ENCFF269DKY
destination: input/encode/rE2G/download_manifest.tsv
- name: crawl_encode rE2G manifest
requires:
- copy encode rE2G manifest
source: input/encode/rE2G/download_manifest.tsv
destination: input/encode/rE2G/source_list_file.txt
- name: copy_many encode rE2G datasets
requires:
- crawl_encode rE2G manifest
source_list_file: input/encode/rE2G/source_list_file.txt
destination: input/encode/rE2G/datasets
##################################################################################################
#: GWAS STEP :######################################################################################
gwas:
- name: copy_many GCCA study
sources: gs://gwas_catalog_top_hits/study_index/*.parquet
destination: input/gwas/study/gcca
- name: copy_many GCCA credible sets
sources: gs://gwas_catalog_top_hits/credible_sets/*.parquet
destination: input/gwas/credible_set/gcca
- name: copy_many GCSS pics study
sources: gs://gwas_catalog_sumstats_pics/study_index/*.parquet
destination: input/gwas/study/gcss_pics
- name: copy_many GCSS pics credible sets
sources: gs://gwas_catalog_sumstats_pics/credible_sets/*.parquet
destination: input/gwas/credible_set/gcss_pics
- name: copy_many GCSS susie study
sources: gs://gwas_catalog_sumstats_susie/study_index/*.parquet
destination: input/gwas/study/gcss_susie
- name: copy_many GCSS susie credible sets
sources: gs://gwas_catalog_sumstats_susie/credible_set_clean/20260130/*.parquet
destination: input/gwas/credible_set/gcss_susie
- name: copy_many finngen study
sources: gs://finngen_data/r12/study_index/*.parquet
destination: input/gwas/study/finngen
- name: copy_many finngen credible sets
sources: gs://finngen_data/r12/credible_set_datasets/susie/*.parquet
destination: input/gwas/credible_set/finngen
##################################################################################################
#: GWAS PPP STEP :################################################################################
gwas_ppp:
- name: copy_many finngen-UKBB-MVP study
sources: gs://finngen_ukb_mvp_meta_data/study_index/*.parquet
destination: input/gwas/study/finngen_ukb_mvp
- name: copy_many finngen-UKBB-MVP credible sets
sources: gs://finngen_ukb_mvp_meta_data/credible_sets/*.parquet
destination: input/gwas/credible_set/finngen_ukb_mvp
##################################################################################################
#: L2G STEP :#####################################################################################
l2g:
- name: copy_many l2g gold standard
sources: gs://genetics-portal-dev-analysis/yt4/2506_release/training_set/20250625_gentropy_paper_v1.json/*.json
destination: input/l2g/gold_standard.json
##################################################################################################
#: LITERATURE STEP :##############################################################################
literature:
- name: copy literature
source: https://ftp.ebi.ac.uk/pub/databases/pmc/DOI/PMID_PMCID_DOI.csv.gz
destination: input/literature/PMID_PMCID_DOI.csv.gz
- name: explode_glob literature dating lut
glob: gs://otar000-evidence_input/literature_export/2026.03/*.json.gz
do:
- name: copy literature dating lut ${match_stem}
source: ${match_prefix}/${match_path}/${match_stem}.${match_ext}
destination: input/literature/literature_export/${uuid}.json.gz
##################################################################################################
#: molQTL STEP: ##############################################################################
molqtl:
- name: copy_many eQTL Catalogue study
sources: gs://eqtl_catalogue_data/study_index/*.parquet
destination: input/molqtl/study/eqtl_catalogue
- name: copy_many eQTL Catalogue credible sets
sources: gs://eqtl_catalogue_data/credible_set_datasets/eqtl_catalogue_susie_patched_v2/*.parquet
destination: input/molqtl/credible_set/eqtl_catalogue
- name: copy_many UKBB PPP EUR study
sources: gs://ukb_ppp_eur_data/study_index/*.parquet
destination: input/molqtl/study/ukb_ppp_eur
- name: copy_many UKBB PPP EUR credible sets
sources: gs://ukb_ppp_eur_data/credible_set_clean/20250129/*.parquet
destination: input/molqtl/credible_set/ukb_ppp_eur
##################################################################################################
#: molQTL PPP STEP: ##############################################################################
molqtl_ppp:
- name: explode otar2077 molqtl
foreach:
- microglia
- MAGE_OTAR
- IBDverse
do:
- name: copy_many molqtl ${each} study
sources: gs://eqtl_catalogue_processed_otar_internal_data/otar2077/${each}/gentropy/study_index/*/*.parquet
destination: input/molqtl/study/otar2077/${each}
- name: copy_many molqtl ${each} credible sets
sources: gs://eqtl_catalogue_processed_otar_internal_data/otar2077/${each}/gentropy/study_locus/*/*.parquet
destination: input/molqtl/credible_set/otar2077/${each}
- name: explode eQTLGen molqtl
foreach:
- single_cell_eqtl
- coeqtl
do:
- name: copy_many molqtl eQTLGen ${each} study
sources: gs://eqtlgen_data/${each}/260326/study/*.parquet
destination: input/molqtl/study/eQTLGen/${each}
- name: copy_many molqtl eQTLGen ${each} credible sets
sources: gs://eqtlgen_data/${each}/260326/credible_set/*.parquet
destination: input/molqtl/credible_set/eQTLGen/${each}
- name: copy_many molqtl eQTL Catalogue GTEx v10 study
sources: gs://eqtl_catalogue_processed_otar_internal_data/otar2077/GTEx_v10_majiq/gentropy/output/study_index/*/*.parquet
destination: input/molqtl/study/GTEx_v10
- name: copy_many molqtl eQTL Catalogue GTEx v10 credible sets
sources: gs://eqtl_catalogue_processed_otar_internal_data/otar2077/GTEx_v10_majiq/gentropy/output/study_locus/*/*.parquet
destination: input/molqtl/credible_set/GTEx_v10
##################################################################################################
#: ONTOMA STEP :##################################################################################
ontoma:
- name: copy ot disease curation
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/mappings/disease/manual_string.tsv
destination: input/ontoma/ot_disease_curation.tsv
- name: copy eva clinvar
source: https://ftp.ebi.ac.uk/pub/databases/eva/ClinVar/latest/eva_clinvar.txt
destination: input/ontoma/eva_clinvar.txt
- name: copy clinvar xrefs
source: https://ftp.ebi.ac.uk/pub/databases/eva/ClinVar/latest/clinvar_xrefs.txt
destination: input/ontoma/clinvar_xrefs.txt
##################################################################################################
#: OPENFDA STEP :#################################################################################
# in case we want to test with only a few files, we can use the jq_filter:
# '.results.drug.event.partitions[0:10] | map(.file)[]'
openfda:
- name: copy blacklisted event
source: https://raw.githubusercontent.com/opentargets/platform-etl-backend/master/src/main/resources/blacklisted_events.txt
destination: input/openfda/blacklisted_events.txt
- name: copy openfda archive manifest
source: https://api.fda.gov/download.json
destination: input/openfda/fda_events.json
- name: explode_openfda openfda archive
requires:
- copy openfda archive manifest
source: input/openfda/fda_events.json
jq_filter: '.results.drug.event.partitions[].file'
prefix: 'https://download.open.fda.gov/drug/event/'
do:
- name: copy fda event ${each}
source: ${prefix}${each}
destination: input/openfda/${each}
##################################################################################################
#: OTAR STEP :####################################################################################
otar:
- name: copy otar meta spreadsheet
source: https://docs.google.com/spreadsheets/d/1CV_shXJy1ACM09HZBB_-3Nl6l_dfkrA26elMAF0ttHs/export?format=csv&gid=1179867447
destination: input/otar/otar_meta.csv
- name: copy otar project to efo spreadsheet
source: https://docs.google.com/spreadsheets/d/1CV_shXJy1ACM09HZBB_-3Nl6l_dfkrA26elMAF0ttHs/export?format=csv&gid=72910172
destination: input/otar/otar_project_to_efo.csv
##################################################################################################
#: PHARMACOGENETICS STEP :########################################################################
pharmacogenetics:
- name: find_latest clinpgx annotation
source: gs://otar012-eva/pharmacogenomics/
scratchpad_key: latest_clinpgx_annotation
- name: copy clinpgx annotation
requires:
- find_latest clinpgx annotation
source: ${latest_clinpgx_annotation}
destination: input/pharmacogenetics/clinpgx_annotation.json.gz
- name: copy ot_curation extracted phenotypes
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/pharmacogenetics/pgx_phenotypes.json
destination: input/pharmacogenetics/phenotypes.json
##################################################################################################
#: REACTOME STEP :################################################################################
reactome:
- name: copy reactome pathways
source: https://reactome.org/download/current/ReactomePathways.txt
destination: input/reactome/ReactomePathways.txt
- name: copy reactome pathways relation
source: https://reactome.org/download/current/ReactomePathwaysRelation.txt
destination: input/reactome/ReactomePathwaysRelation.txt
##################################################################################################
#: SO STEP :######################################################################################
so:
- name: copy sequence ontology
source: https://raw.githubusercontent.com/The-Sequence-Ontology/SO-Ontologies/master/Ontology_Files/so.json
destination: input/so/so.json
##################################################################################################
#: TARGET STEP :##################################################################################
target:
- name: elasticsearch chembl target
url: https://www.ebi.ac.uk/chembl/elk/es
destination: input/target/chembl/chembl_target.jsonl
index: chembl_${chembl_version}_target
fields:
- _metadata
- target_chembl_id
- target_components
- target_type
- pref_name
- name: copy chemical probes
source: https://www.probes-drugs.org/media/download/probes/pd_export_${probes_drugs_version}_probes_standardized.xlsx
destination: input/target/chemicalprobes/probes.xlsx
- name: copy chemical probes links
source: https://www.probes-drugs.org/media/download/id_mapping/pd_export_${probes_drugs_version}_links_standardized.csv
destination: input/target/chemicalprobes/probes_links.csv
- name: copy ensembl
source: https://ftp.ensembl.org/pub/release-${ensembl_version}/json/homo_sapiens/homo_sapiens.json
destination: input/target/ensembl/homo_sapiens.json
- name: copy gencode
source: https://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_${gencode_version}/gencode.v${gencode_version}.annotation.gff3.gz
destination: input/target/gencode/gencode.gff3.gz
- name: explode_glob download essentiality files
glob: 'gs://otar000-evidence_input/Essentiality/DepMap/${depmap_version}/*.csv'
do:
- name: copy depmap ${match_stem}
source: ${uri}
destination: input/target/gene-essentiality/depmap/${match_stem}.${match_ext}
- name: copy ot_curation depmap_tissue_mapping
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/mappings/biosystem/depmap_uberon_mapping.csv
destination: input/ot_curation/mappings/biosystem/depmap_uberon_mapping.csv
- name: copy gene name tsv
source: https://storage.googleapis.com/public-download-files/hgnc/tsv/tsv/hgnc_complete_set.txt
destination: input/target/genenames/hgnc_complete_set.tsv
- name: copy gene name json
source: https://storage.googleapis.com/public-download-files/hgnc/json/json/hgnc_complete_set.json
destination: input/target/genenames/hgnc_complete_set.json
- name: copy gnomad
source: https://storage.googleapis.com/gcp-public-data--gnomad/release/${gnomad_version}/constraint/gnomad.v${gnomad_version}.constraint_metrics.tsv
destination: input/target/gnomad/gnomad_constraint_metrics.tsv
- name: copy go annotation human eco gpa
source: https://ftp.ebi.ac.uk/pub/databases/GO/goa/HUMAN/goa_human.gpa.gz
destination: input/target/go/goa_human_eco.gpa.gz
- name: copy go annotation human gaf
source: https://ftp.ebi.ac.uk/pub/databases/GO/goa/HUMAN/goa_human.gaf.gz
destination: input/target/go/goa_human.gaf.gz
- name: copy go annotation human rna gaf
source: https://ftp.ebi.ac.uk/pub/databases/GO/goa/HUMAN/goa_human_rna.gaf.gz
destination: input/target/go/goa_human_rna.gaf.gz
- name: copy go ensembl
source: https://ftp.ebi.ac.uk/pub/databases/RNAcentral/current_release/id_mapping/database_mappings/ensembl.tsv
destination: input/target/go/ensembl.tsv
- name: find_latest cosmic hallmark
source: gs://otar007-cosmic/hallmarks
scratchpad_key: 'latest_cosmic_hallmark'
- name: copy cosmic
requires:
- find_latest cosmic hallmark
source: ${latest_cosmic_hallmark}
destination: input/target/hallmarks/cosmic-hallmarks.tsv.gz
- name: explode homology
foreach:
- caenorhabditis_elegans
- canis_lupus_familiaris
- cavia_porcellus
- danio_rerio
- drosophila_melanogaster
- macaca_mulatta
- mus_musculus
- oryctolagus_cuniculus
- pan_troglodytes
- rattus_norvegicus
- sus_scrofa
- xenopus_tropicalis
- homo_sapiens
do:
- name: copy ${each} gene dictionary
source: https://ftp.ensembl.org/pub/release-${ensembl_version}/json/${each}/${each}.json
destination: input/target/homologue/gene_dictionary/${each}.json
- name: copy ${each} protein homology
source: https://ftp.ensembl.org/pub/release-${ensembl_version}/tsv/ensembl-compara/homologies/${each}/Compara.${ensembl_version}.protein_default.homologies.tsv.gz
destination: input/target/homologue/homologies/protein-${each}.tsv.gz
- name: copy ${each} ncrna homology
source: https://ftp.ensembl.org/pub/release-${ensembl_version}/tsv/ensembl-compara/homologies/${each}/Compara.${ensembl_version}.ncrna_default.homologies.tsv.gz
destination: input/target/homologue/homologies/ncrna-${each}.tsv.gz
- name: copy homology ensembl vertebrates
source: https://ftp.ensembl.org/pub/release-${ensembl_version}/species_EnsemblVertebrates.txt
destination: input/target/homologue/species_EnsemblVertebrates.txt
- name: copy hpa subcellular location
source: https://www.proteinatlas.org/download/tsv/subcellular_location.tsv.zip
destination: input/target/hpa/subcellular_location.tsv.zip
- name: find_latest hpa subcellular location ssl
source: gs://otar001-core/subcellularLocations
scratchpad_key: latest_hpa_subcellular_location_ssl
- name: copy subcellular location
requires:
- find_latest hpa subcellular location ssl
source: ${latest_hpa_subcellular_location_ssl}
destination: input/target/hpa/subcellular_locations_ssl.tsv
- name: copy ncbi homosapiens gene info
source: https://ftp.ncbi.nlm.nih.gov/gene/DATA/GENE_INFO/Mammalia/Homo_sapiens.gene_info.gz
destination: input/target/ncbi/Homo_sapiens.gene_info.gz
- name: copy project score gene identifier
source: https://cog.sanger.ac.uk/cmp/download/gene_identifiers_latest.csv.gz
destination: input/target/project-scores/gene_identifiers_latest.csv.gz
- name: copy project score essentiality matrix
source: https://cog.sanger.ac.uk/cmp/download/essentiality_matrices.zip
destination: input/target/project-scores/essentiality_matrices.zip
- name: copy reactome ensembl2reactome
source: https://reactome.org/download/current/Ensembl2Reactome.txt
destination: input/target/reactome/Ensembl2Reactome.txt
- name: explode ot_curation target safety
foreach:
- adverse_effects.tsv
- safety_risks.tsv
- secondary_pharmacology.json
do:
- name: copy ${each}
source: https://raw.githubusercontent.com/opentargets/curation/refs/tags/${ot_curation}/target_safety/${each}
destination: input/target/safety/${each}
- name: find_latest toxcast
source: gs://otar001-core/TargetSafety/data_files/toxcast
scratchpad_key: latest_toxcast
- name: copy toxcast
requires:
- find_latest toxcast
source: ${latest_toxcast}
destination: input/target/safety/toxcast.tsv
- name: find_latest aopwiki
source: gs://otar001-core/TargetSafety/data_files/aopwiki
scratchpad_key: latest_aopwiki
- name: copy aopwiki
requires:
- find_latest aopwiki
source: ${latest_aopwiki}
destination: input/target/safety/aopwiki.json
- name: find_latest tep
source: gs://otar001-core/TEPs
scratchpad_key: latest_tep
- name: copy tep
requires:
- find_latest tep
source: ${latest_tep}
destination: input/target/tep/tep.json.gz
- name: find_latest tractability
source: gs://otar001-core/Tractability
scratchpad_key: latest_tractability
- name: copy tractability
requires:
- find_latest tractability
source: ${latest_tractability}
destination: input/target/tractability/tractability.tsv
- name: copy uniprot
source: https://rest.uniprot.org/uniprotkb/stream?compressed=true&format=txt&query=%28%28reviewed%3Atrue%29%29%20AND%20%28model_organism%3A9606%29
destination: input/target/uniprot/uniprot.txt.gz
- name: copy uniprot-ssl
source: https://rest.uniprot.org/locations/stream?compressed=true&fields=id%2Cname%2Ccategory&format=tsv&query=%28%2A%29
destination: input/target/uniprot/uniprot-ssl.tsv.gz
##################################################################################################
#: TARGET_PRIORITISATION STEP :###################################################################
target_prioritisation:
- name: copy protein atlas