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config.yaml
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1594 lines (1524 loc) · 61.1 KB
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---
work_path: ../pipeline_work
log_level: DEBUG
pool_size: 4
scratchpad: {}
steps:
#: DISEASE STEP :#################################################################################
disease:
- name: transform disease_efo
source: input/disease/efo_otar_slim.json
destination: output/disease/disease.parquet
transformer: disease
- name: transform disease_hpo
source: input/disease/hp-full.json
destination: output/disease_hpo/disease_hpo.parquet
transformer: disease_hpo
- name: transform disease_phenotype
requires:
- transform disease_efo
source:
disease_path: output/disease/disease.parquet
phenotype_path: input/disease/phenotype.hpoa
mondo_path: input/disease/mondo.json
destination: output/disease_phenotype/disease_phenotype.parquet
transformer: disease_phenotype
##################################################################################################
#: GO STEP :######################################################################################
go:
- name: transform go
transformer: go
source: input/go/go.obo
destination: output/go/go.parquet
#: EXPRESSION STEP :##############################################################################
expression:
- name: unzip normal tissue
source: input/expression/normal_tissue.tsv.zip
inner_file: normal_ihc_data.tsv
destination: intermediate/expression/normal_tissue.tsv
- name: gzip normal tissue
requires:
- unzip normal tissue
source: intermediate/expression/normal_tissue.tsv
destination: intermediate/expression/normal_tissue.tsv.gz
- name: transform expression tissue
source: input/expression/map_with_efos.json
destination: intermediate/expression/tissue-translation-map.parquet
transformer: expression_tissue
##################################################################################################
#: MOUSE_PHENOTYPES STEP :########################################################################
mouse_phenotype:
- name: pyspark generate from IMPC and validate with target
pyspark: mouse_phenotype
source:
target: output/target
# IMPC source files
solr_gene_gene: input/impc/gene_gene.csv
solr_mouse_model: input/impc/mouse_model.csv
solr_disease_model_summary: input/impc/disease_model_summary.csv
solr_ontology: input/impc/ontology.csv
hgnc_gene_mappings: input/target/genenames/hgnc_complete_set.tsv
mouse_gene_mappings: input/impc/MGI_Gene_Model_Coord.rpt
mouse_pubmed_refs: input/impc/MGI_PhenoGenoMP.rpt
mp_ontology: input/impc/mp.json
destination:
output: output/mouse_phenotype
excluded: excluded/mouse_phenotype
##################################################################################################
#: CHEMICAL PROBES STEP :#########################################################################
chemical_probes:
- name: pyspark chemical probes
pyspark: chemical_probes
source:
probes_excel: input/target/chemicalprobes/probes.xlsx
drugs_csv: input/target/chemicalprobes/probes_links.csv
chembl_molecule: intermediate/chembl_molecule
destination: intermediate/chemical_probes_evidence.parquet
##################################################################################################
#: CODING VARIANT STEP :##########################################################################
coding_variant:
- name: pyspark coding_variant view
pyspark: coding_variant
source:
variant: output/variant
target: output/target
disease: output/disease
evidence_eva: output/evidence_eva
evidence_eva_somatic: output/evidence_eva_somatic
evidence_uniprot_variant: output/evidence_uniprot_variants
evidence_gwas_credible_set: output/evidence_gwas_credible_sets
credible_set: output/credible_set
pharmacogenetics: output/pharmacogenomics
destination: view/coding_variant
##################################################################################################
#: OPENFDA STEP :#################################################################################
openfda:
- name: explode_glob transform openfda drug events
glob: input/openfda/**/*.zip
do:
- name: transform ${match_path}/${match_stem}
source: ${uri}
destination: intermediate/openfda/${uuid}.parquet
transformer: openfda
##################################################################################################
#: SO STEP :######################################################################################
so:
- name: transform so
source: input/so/so.json
destination: output/so/so.parquet
transformer: so
##################################################################################################
#: TARGET STEP :##################################################################################
target:
- name: unzip subcellular location
source: input/target/hpa/subcellular_location.tsv.zip
destination: intermediate/target/hpa/subcellular_location.tsv
- name: gzip subcellular location
requires:
- unzip subcellular location
source: intermediate/target/hpa/subcellular_location.tsv
destination: intermediate/target/hpa/subcellular_location.tsv.gz
- name: csv_to_parquet subcellular location ssl
source: input/target/hpa/subcellular_locations_ssl.tsv
destination: intermediate/target/hpa/subcellular_locations_ssl.parquet
separator: "\t"
- name: unzip essentiality matrix
source: input/target/project-scores/essentiality_matrices.zip
inner_file: EssentialityMatrices/04_binaryDepScores.tsv
destination: intermediate/target/project-scores/04_binaryDepScores.tsv
- name: csv_to_parquet essentiality matrix
requires:
- unzip essentiality matrix
source: intermediate/target/project-scores/04_binaryDepScores.tsv
local_source: True
destination: intermediate/target/project-scores/04_binaryDepScores.parquet
separator: "\t"
- name: csv_to_parquet gene identifier
source: input/target/project-scores/gene_identifiers_latest.csv.gz
destination: intermediate/target/project-scores/gene_identifiers_latest.parquet
- name: download ensembl
source: input/target/ensembl/homo_sapiens.json
- name: transform ensembl
requires:
- download ensembl
transformer: ensembl
source: input/target/ensembl/homo_sapiens.json
destination: intermediate/target/ensembl/homo_sapiens.parquet
- name: explode_glob homology
glob: input/target/homologue/gene_dictionary/*.json
do:
- name: transform ${match_stem} to parquet
source: ${uri}
destination: intermediate/target/homologue/gene_dictionary/${match_path}/${match_stem}.parquet
transformer: homology
##################################################################################################
#: TARGET_SAFETY STEP :############### - part of target, pyspark tasks must run standalone for now
target_safety:
- name: pyspark safety
pyspark: target_safety
source:
adverse_events: input/target/safety/adverse_effects.tsv
safety_risks: input/target/safety/safety_risks.tsv
brennan: input/target/safety/secondary_pharmacology.json
toxcast: input/target/safety/toxcast.tsv
aopwiki: input/target/safety/aopwiki.json
pharmacogenetics: output/pharmacogenomics
destination: intermediate/target/safety.parquet
#: TARGET_GENE_ESSENTIALITY STEP :#### - part of target, pyspark tasks must run standalone for now
target_gene_essentiality:
- name: pyspark gene_essentiality
pyspark: gene_essentiality
source:
models: input/target/gene-essentiality/depmap/Model.csv
essential_genes: input/target/gene-essentiality/depmap/CRISPRInferredCommonEssentials.csv
gene_effects: input/target/gene-essentiality/depmap/CRISPRGeneEffect.csv
gene_expression: input/target/gene-essentiality/depmap/OmicsExpressionProteinCodingGenesTPMLogp1.csv
mutation_hotspots: input/target/gene-essentiality/depmap/OmicsSomaticMutationsMatrixHotspot.csv
mutation_damaging: input/target/gene-essentiality/depmap/OmicsSomaticMutationsMatrixDamaging.csv
depmap_tissue_mapping: input/ot_curation/mappings/biosystem/depmap_uberon_mapping.csv
destination: intermediate/target/gene-essentiality/essentiality.parquet
settings:
keep_only_essentials: false
##################################################################################################
#: PHARMACOGENETICS STEP :########################################################################
pharmacogenetics:
- name: pyspark pharmacogenetics
pyspark: pharmacogenetics
source:
clinpgx: input/pharmacogenetics/clinpgx_annotation.json.gz
phenotypes: input/pharmacogenetics/phenotypes.json
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
chembl_molecule: intermediate/chembl_molecule
drug_mechanism_of_action: output/drug_mechanism_of_action
destination:
associations: output/pharmacogenomics
phenotypes: intermediate/pharmacogenetics/phenotypes.json
settings:
openai_token_filename: /var/run/secrets/openai_token
properties:
'spark.jars.packages': 'com.johnsnowlabs.nlp:spark-nlp_2.12:6.1.3'
##################################################################################################
#: EVIDENCE_PROJECT_SCORE STEP :##################################################################
evidence_project_score:
- name: pyspark project_score
pyspark: project_score
source:
gene_scores: input/evidence/project_score/mapped_diseases.tsv
cell_types: input/evidence/project_score/cell_types.tsv
cell_passport: input/evidence/cell_passport.csv.gz
cell_line_mapping: input/ot_curation/mappings/biosystem/depmap_uberon_mapping.csv
destination: intermediate/evidence/project_score.parquet
##################################################################################################
#: EVIDENCE_GENE_BURDEN STEP :####################################################################
evidence_gene_burden:
- name: pyspark gene_burden
pyspark: gene_burden
source:
az_binary: input/evidence/gene_burden/astrazeneca/azphewas-com-470k-phewas-binary
az_quantitative: input/evidence/gene_burden/astrazeneca/azphewas-com-470k-phewas-quantitative
az_genes: input/evidence/gene_burden/astrazeneca/azphewas_com_genes_UK_Biobank_470k.csv
az_phenotypes: input/evidence/gene_burden/astrazeneca/azphewas_com_phenotypes_UK_Biobank_470k.csv
finngen: input/evidence/gene_burden/finngen/finngen.txt.gz
finngen_phenotypes: input/evidence/gene_burden/finngen/phenos
genebass: input/evidence/gene_burden/genebass/**.parquet
cvdi: input/evidence/gene_burden/cvdi.xlsx
curated_studies: input/ot_curation/gene_burden/curated_evidence.tsv
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
ontoma_disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
destination: intermediate/evidence/gene_burden.parquet
settings:
finngen_release: R12
##################################################################################################
#: EVIDENCE_CLINICAL_PRECEDENCE STEP :############################################################
evidence_clinical_precedence:
- name: pyspark clinical_precedence
pyspark: clinical_precedence
source:
clinical_report: output/clinical_report
drug_mechanism_of_action: output/drug_mechanism_of_action
destination:
output: intermediate/evidence/clinical_precedence.parquet
excluded: excluded/clinical_precedence_failed_report
settings:
invalid_clinical_report_qc:
- PHASE_IV_NOT_APPROVED
- UNVALIDATED_INDICATION
- INDIRECT_PRIMARY_PURPOSE
##################################################################################################
#: EVIDENCE_CANCER_BIOMARKERS STEP :################################################################
evidence_cancer_biomarkers:
- name: pyspark cancer_biomarkers
pyspark: cancer_biomarkers
source:
associations: input/evidence/cancerbiomarkers/associations.tsv
source: input/evidence/cancerbiomarkers/sources.jsonl
disease: input/evidence/cancerbiomarkers/diseases.jsonl
drugs: output/drug_molecule
destination: intermediate/evidence/cancer_biomarkers.parquet
##################################################################################################
#: EVIDENCE_ORPHANET STEP :#######################################################################
evidence_orphanet:
- name: pyspark orphanet
pyspark: orphanet
source:
evidence: input/evidence/orphanet.xml
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
ontoma_disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
destination: intermediate/evidence/orphanet.parquet
##################################################################################################
#: EVIDENCE_CLINGEN STEP :#######################################################################
evidence_clingen:
- name: pyspark clingen
pyspark: clingen
source:
evidence: input/evidence/clingen.csv
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
ontoma_disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
destination: intermediate/evidence/clingen.parquet
##################################################################################################
#: EVIDENCE_IMPC STEP :###########################################################################
evidence_impc:
- name: pyspark impc evidence strings
pyspark: impc
source:
solr_gene_gene: input/impc/gene_gene.csv
solr_ontology_ontology: input/impc/ontology_ontology.csv
solr_mouse_model: input/impc/mouse_model.csv
solr_disease: input/impc/disease.csv
solr_disease_model_summary: input/impc/disease_model_summary.csv
solr_ontology: input/impc/ontology.csv
hgnc_gene_mappings: input/target/genenames/hgnc_complete_set.tsv
mouse_gene_mappings: input/impc/MGI_Gene_Model_Coord.rpt
mouse_pubmed_refs: input/impc/MGI_PhenoGenoMP.rpt
mp_ontology: input/impc/mp.json
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
ontoma_disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
destination: intermediate/evidence/impc.parquet
settings:
score_cutoff: 41
##################################################################################################
#: EVIDENCE PANEL APP STEP :#######################################################################
evidence_panel_app:
- name: pyspark panel_app
pyspark: panel_app
source:
evidence: input/evidence/panelapp/panel_app.tsv
panels: input/evidence/panelapp/panels.jsonl
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
ontoma_disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
destination: intermediate/evidence/panel_app.parquet
##################################################################################################
#: EVIDENCE_CRISPR_SCREENS STEP :#################################################################
evidence_crispr_screens:
- name: pyspark crispr screens
pyspark: crispr_screens
source:
screens: input/evidence/crispr_screens/brain_screens.json.gz
studies_dir: input/evidence/crispr_screens/brain_studies
disease_mapping: input/ot_curation/mappings/disease/brain_crispr_studies.tsv
destination: intermediate/evidence/crispr_screens.parquet
##################################################################################################
#: EVIDENCE_GENE2PHENOTYPE STEP :#################################################################
evidence_gene2phenotype:
- name: pyspark gene2phenotype
pyspark: gene2phenotype
source:
cancer_panel: input/evidence/gene2phenotype/cancer.csv
cardiac_panel: input/evidence/gene2phenotype/cardiac.csv
developmental_panel: input/evidence/gene2phenotype/dd.csv
ear_panel: input/evidence/gene2phenotype/ear.csv
eye_panel: input/evidence/gene2phenotype/eye.csv
skeletal_panel: input/evidence/gene2phenotype/skeletal.csv
skin_panel: input/evidence/gene2phenotype/skin.csv
ontoma_disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
ontoma_disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
destination: intermediate/evidence/gene2phenotype.parquet
##################################################################################################
#: EVIDENCE_INTOGEN STEP :#######################################################################
evidence_intogen:
- name: pyspark intogen
pyspark: intogen
source:
genes: input/evidence/intogen/Compendium_Cancer_Genes.tsv
cohorts: input/evidence/intogen/cohorts.tsv
disease_mapping: input/ot_curation/mappings/disease/cancer2EFO_mappings.tsv
destination: intermediate/evidence/intogen.parquet
##################################################################################################
#: EVIDENCE PPP STEP :############################################################################
evidence_ot_crispr:
- name: pyspark ot_crispr
pyspark: ot_crispr
source:
study_table: input/evidence/ot_crispr/config.tsv
ot_crispr_data: input/evidence/ot_crispr/data
destination: intermediate/evidence/ot_crispr.parquet
##################################################################################################
#: ONTOMA STEP :##################################################################################
ontoma:
- name: pyspark ontoma generate lookup tables
pyspark: ontoma_lut_generation
source:
disease_index: output/disease/disease.parquet
ot_disease_curation: input/ontoma/ot_disease_curation.tsv
eva_clinvar: input/ontoma/eva_clinvar.txt
clinvar_xrefs: input/ontoma/clinvar_xrefs.txt
destination:
disease_label_lut: intermediate/ontoma/disease_label_lookup_table.parquet
disease_id_lut: intermediate/ontoma/disease_id_lookup_table.parquet
##################################################################################################
#: DRUG_WARNING STEP :############################################################################
drug_warning:
- name: pyspark drug_warning
pyspark: drug_warning
source: input/drug/chembl_drug_warning.jsonl
destination: output/drug_warning
##################################################################################################
#: DRUG_MECHANISM_OF_ACTION STEP :###############################################################
drug_mechanism_of_action:
- name: pyspark drug_mechanism_of_action
pyspark: drug_mechanism_of_action
source:
chembl_mechanism: input/drug/chembl_mechanism.jsonl
chembl_target: input/drug/chembl_target.jsonl
target: intermediate/target/ensembl/homo_sapiens.parquet
destination: output/drug_mechanism_of_action
##################################################################################################
#: CHEMBL_MOLECULE STEP :#########################################################################
chembl_molecule:
- name: pyspark chembl_molecule
pyspark: chembl_molecule
source:
chembl_molecule: input/drug/chembl_molecule.jsonl
drugbank: input/drug/drugbank.csv.gz
destination: intermediate/chembl_molecule
##################################################################################################
#: DRUG_MOLECULE STEP :##########################################################################
drug_molecule:
- name: pyspark drug_molecule
pyspark: drug_molecule
source:
molecule: intermediate/chembl_molecule
chemical_probes: intermediate/chemical_probes_evidence.parquet
mechanism_of_action: output/drug_mechanism_of_action
clinical_report: output/clinical_report
disease: output/disease
destination:
output: output/drug_molecule
excluded: excluded/drug_molecule_failed_report
settings:
invalid_clinical_report_qc:
- PHASE_IV_NOT_APPROVED
- UNVALIDATED_INDICATION
- INDIRECT_PRIMARY_PURPOSE
##################################################################################################
#: CLINICAL_REPORT STEP :#######################################################################
clinical_report:
- name: pyspark clinical_report
source:
chembl_molecule: intermediate/chembl_molecule/*.parquet
disease: output/disease/disease.parquet
pmda: input/clinical_report/pmda.pdf
ttd: input/clinical_report/ttd.txt
ema: input/clinical_report/ema_medicines.xlsx
aact_studies: input/clinical_report/aact/studies.parquet
aact_interventions: input/clinical_report/aact/interventions.parquet
aact_conditions: input/clinical_report/aact/conditions.parquet
aact_study_references: input/clinical_report/aact/study_references.parquet
aact_designs: input/clinical_report/aact/designs.parquet
aact_summaries: input/clinical_report/aact/summaries.parquet
chembl_indication: input/clinical_report/chembl/drug_indication.parquet
chembl_indication_references: input/clinical_report/chembl/drug_indication_refs.parquet
chembl_drug_warning: input/clinical_report/chembl/drug_warning.parquet
chembl_drug_warning_references: input/clinical_report/chembl/drug_warning_refs.parquet
chembl_molecule_dictionary: input/clinical_report/chembl/molecule_dictionary.parquet
chembl_curation: input/clinical_report/chembl_mapping.parquet
ner_cache_path: input/clinical_report/ner_cache.parquet
destination:
output: output/clinical_report/clinical_report.parquet
settings:
ner_batch_size: 256
pyspark: clinical_report
##################################################################################################
#: CLINICAL_INDICATION STEP :####################################################################
clinical_indication:
- name: transform clinical_indication
source: output/clinical_report/clinical_report.parquet
destination:
output: output/clinical_indication/clinical_indication.parquet
excluded: excluded/clinical_indication_failed_report/clinical_indication_failed_report.parquet
transformer: clinical_indication
settings:
invalid_clinical_report_qc:
- PHASE_IV_NOT_APPROVED
- UNVALIDATED_INDICATION
- INDIRECT_PRIMARY_PURPOSE
##################################################################################################
#: CLINICAL_TARGET STEP :#######################################################################
clinical_target:
- name: transform clinical_target
source:
clinical_report: output/clinical_report/clinical_report.parquet
drug_mechanism_of_action: output/drug_mechanism_of_action/*.parquet
destination:
output: output/clinical_target/clinical_target.parquet
excluded: excluded/clinical_target_failed_report/clinical_target_failed_report.parquet
transformer: clinical_target
settings:
invalid_clinical_report_qc:
- PHASE_IV_NOT_APPROVED
- UNVALIDATED_INDICATION
- INDIRECT_PRIMARY_PURPOSE
##################################################################################################
#: TARGET_PRIORITISATION STEP :###################################################################
target_prioritisation:
- name: pyspark target_prioritisation
pyspark: target_prioritisation
source:
targets: output/target
mouse_phenotypes: output/mouse_phenotype
molecule: output/drug_molecule
mechanism_of_action: output/drug_mechanism_of_action
hpa_data: input/target_prioritisation/proteinatlas.json.gz
uniprot_slterms: input/target_prioritisation/uniprot_locations.tsv.gz
mouse_pheno_scores: input/target_prioritisation/mouse_pheno_scores.csv
destination: output/target_prioritisation
properties:
spark.driver.memory: 16g
##################################################################################################
#: ASSOCIATION STEP :##############################################################################
association:
- name: pyspark association
pyspark: association
source:
evidence: output/evidence_*
disease: output/disease
destination:
overall_direct: output/association_overall_direct
overall_indirect: output/association_overall_indirect
by_datasource_direct: output/association_by_datasource_direct
by_datasource_indirect: output/association_by_datasource_indirect
by_datatype_direct: output/association_by_datatype_direct
by_datatype_indirect: output/association_by_datatype_indirect
temporary: intermediate/indirect_association_intermediate
properties:
spark.driver.memory: '12g'
settings:
novelty_scale: 2 # 2 for long tailed slow decays
novelty_shift: 3 # 3 for long tailed slow decays
novelty_window: 10
datasource_weights:
- datasourceId: cancer_biomarkers
weight: 0.5
datatypeId: affected_pathway
toPropagate: true
- datasourceId: cancer_gene_census
weight: 1.0
datatypeId: somatic_mutation
toPropagate: true
- datasourceId: clingen
weight: 1.0
datatypeId: genetic_literature
toPropagate: true
- datasourceId: clinical_precedence
weight: 1.0
datatypeId: known_drug
toPropagate: true
- datasourceId: crispr
weight: 1.0
datatypeId: affected_pathway
toPropagate: true
- datasourceId: crispr_screen
weight: 1.0
datatypeId: affected_pathway
toPropagate: true
- datasourceId: encore
weight: 0.5
datatypeId: ot_partner
toPropagate: true
- datasourceId: europepmc
weight: 0.2
datatypeId: literature
toPropagate: true
- datasourceId: eva
weight: 1.0
datatypeId: genetic_association
toPropagate: true
- datasourceId: eva_somatic
weight: 1.0
datatypeId: somatic_mutation
toPropagate: true
- datasourceId: expression_atlas
weight: 0.2
datatypeId: rna_expression
toPropagate: false
- datasourceId: gene2phenotype
weight: 1.0
datatypeId: genetic_literature
toPropagate: true
- datasourceId: gene_burden
weight: 1.0
datatypeId: genetic_association
toPropagate: true
- datasourceId: genomics_england
weight: 1.0
datatypeId: genetic_literature
toPropagate: true
- datasourceId: gwas_credible_sets
weight: 1.0
datatypeId: genetic_association
toPropagate: true
- datasourceId: impc
weight: 0.2
datatypeId: animal_model
toPropagate: true
- datasourceId: intogen
weight: 1.0
datatypeId: somatic_mutation
toPropagate: true
- datasourceId: orphanet
weight: 1.0
datatypeId: genetic_association
toPropagate: true
- datasourceId: ot_crispr
weight: 0.5
datatypeId: ot_partner
toPropagate: true
- datasourceId: ot_crispr_validation
weight: 0.5
datatypeId: ot_validation_lab
toPropagate: true
- datasourceId: reactome
weight: 1.0
datatypeId: affected_pathway
toPropagate: true
- datasourceId: uniprot_literature
weight: 1.0
datatypeId: genetic_literature
toPropagate: true
- datasourceId: uniprot_variants
weight: 1.0
datatypeId: genetic_association
toPropagate: true
##################################################################################################
#: EVIDENCE POST PROCESS STEP :###################################################################
evidence_postprocess_gwas_credible_sets:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: intermediate/evidence/l2g_evidence
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/gwas_credible_sets
evidence: output/evidence_gwas_credible_sets
settings:
evidence_format: parquet
score_expression: resourceScore
datasource_id: gwas_credible_sets
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- studyLocusId
evidence_postprocess_expression_atlas:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: input/evidence/atlas.json.bz2
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/expression_atlas
evidence: output/evidence_expression_atlas
settings:
evidence_format: json
datasource_id: expression_atlas
score_expression: 'array_min(array(1.0, pvalue_linear_score(resourceScore) * (abs(log2FoldChangeValue) / 10) * (log2FoldChangePercentileRank / 100)))'
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- contrast
- studyId
excluded_biotypes:
- 'IG_C_pseudogene'
- 'IG_J_pseudogene'
- 'IG_pseudogene'
- 'IG_V_pseudogene'
- 'polymorphic_pseudogene'
- 'processed_pseudogene'
- 'pseudogene'
- 'rRNA'
- 'rRNA_pseudogene'
- 'snoRNA'
- 'snRNA'
- 'transcribed_processed_pseudogene'
- 'transcribed_unitary_pseudogene'
- 'transcribed_unprocessed_pseudogene'
- 'TR_J_pseudogene'
- 'TR_V_pseudogene'
- 'unitary_pseudogene'
- 'unprocessed_pseudogene'
evidence_postprocess_clinvar:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: input/evidence/eva.json.gz
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/eva
evidence: output/evidence_eva
settings:
evidence_format: json
datasource_id: eva
score_expression: |
coalesce(
array_max(
transform(
clinicalSignificances,
x -> element_at(
map(
'association not found', 0.0,
'benign', 0.0,
'not provided', 0.0,
'likely benign', 0.0,
'evidence only', 0.0,
'likely risk allele', 0.3,
'low penetrance', 0.3,
'conflicting interpretations of pathogenicity', 0.3,
'conflicting data from submitters', 0.3,
'other', 0.3,
'uncertain significance', 0.3,
'uncertain risk allele', 0.3,
'established risk allele', 0.5,
'risk factor', 0.5,
'affects', 0.5,
'likely pathogenic', 0.7,
'confers sensitivity', 0.9,
'association', 0.9,
'drug response', 0.9,
'protective', 0.9,
'pathogenic', 0.9
),
x
)
)
),
0.0
) + coalesce(
element_at(
map(
'practice guideline', 0.1,
'reviewed by expert panel', 0.07,
'criteria provided, multiple submitters, no conflicts', 0.05,
'criteria provided, conflicting interpretations', 0.02,
'criteria provided, single submitter', 0.02,
'no assertion for the individual variant', 0.0,
'no assertion criteria provided', 0.0,
'no assertion provided', 0.0
),
confidence
),
0.0
)
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- studyId
- variantId
direction_on_trait_expression: |
CASE WHEN CONCAT_WS('', clinicalSignificances) RLIKE '(?i)pathogenic'
AND CONCAT_WS('', clinicalSignificances) RLIKE '(?i)protect' THEN null
WHEN CONCAT_WS('', clinicalSignificances) RLIKE '(?i)pathogenic' THEN 'risk'
WHEN CONCAT_WS('', clinicalSignificances) RLIKE '(?i)protect' THEN 'protect'
ELSE null
END
direction_on_target_expression: |
CASE
WHEN variantFunctionalConsequenceId IN (
'SO_0001589',
'SO_0001587',
'SO_0001574',
'SO_0001575',
'SO_0002012',
'SO_0001578',
'SO_0001893'
) THEN 'LoF'
ELSE null
END
evidence_postprocess_clinvar_somatic:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: input/evidence/eva.json.gz
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/eva_somatic
evidence: output/evidence_eva_somatic
settings:
evidence_format: json
datasource_id: eva_somatic
score_expression: |
coalesce(
array_max(
transform(
clinicalSignificances,
x -> element_at(
map(
'association not found', 0.0,
'benign', 0.0,
'not provided', 0.0,
'likely benign', 0.0,
'evidence only', 0.0,
'likely risk allele', 0.3,
'conflicting interpretations of pathogenicity', 0.3,
'conflicting data from submitters', 0.3,
'other', 0.3,
'uncertain significance', 0.3,
'low penetrance', 0.3,
'uncertain risk allele', 0.3,
'established risk allele', 0.5,
'risk factor', 0.5,
'affects', 0.5,
'likely pathogenic', 0.7,
'confers sensitivity', 0.9,
'association', 0.9,
'drug response', 0.9,
'protective', 0.9,
'pathogenic', 0.9
),
x
)
)
),
0.0
) + coalesce(
element_at(
map(
'practice guideline', 0.1,
'reviewed by expert panel', 0.07,
'criteria provided, multiple submitters, no conflicts', 0.05,
'criteria provided, conflicting interpretations', 0.02,
'criteria provided, single submitter', 0.02,
'no assertion for the individual variant', 0.0,
'no assertion criteria provided', 0.0,
'no assertion provided', 0.0
),
confidence
),
0.0
)
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- studyId
- variantId
direction_on_trait_expression: |
CASE WHEN CONCAT_WS('', clinicalSignificances) RLIKE '(?i)pathogenic'
AND CONCAT_WS('', clinicalSignificances) RLIKE '(?i)protect' THEN null
WHEN CONCAT_WS('', clinicalSignificances) RLIKE '(?i)pathogenic' THEN 'risk'
WHEN CONCAT_WS('', clinicalSignificances) RLIKE '(?i)protect' THEN 'protect'
ELSE null
END
direction_on_target_expression: |
CASE
WHEN variantFunctionalConsequenceId IN (
'SO_0001589',
'SO_0001587',
'SO_0001574',
'SO_0001575',
'SO_0002012',
'SO_0001578',
'SO_0001893'
) THEN 'LoF'
ELSE null
END
evidence_postprocess_uniprot_variants:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: input/evidence/uniprot_variants.json.gz
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/uniprot_variants
evidence: output/evidence_uniprot_variants
settings:
evidence_format: json
datasource_id: uniprot_variants
score_expression: |
element_at(
map(
'high', 1.0,
'medium', 0.5
),
confidence
)
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- diseaseFromSource
- variantRsId
- variantId
- literature
evidence_postprocess_uniprot_literature:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: input/evidence/uniprot_literature.json.gz
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/uniprot_literature
evidence: output/evidence_uniprot_literature
settings:
evidence_format: json
datasource_id: uniprot_literature
score_expression: |
element_at(
map(
'high', 1.0,
'medium', 0.5
),
confidence
)
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- diseaseFromSource
evidence_postprocess_clingen:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: intermediate/evidence/clingen.parquet
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export
destination:
failed_evidence: excluded/evidence/clingen
evidence: output/evidence_clingen
settings:
datasource_id: clingen
evidence_format: parquet
score_expression: |
element_at(
map(
'No Known Disease Relationship', 0.01,
'Refuted', 0.01,
'Disputed', 0.01,
'Limited', 0.01,
'Moderate', 0.5,
'Strong', 1.0,
'Definitive', 1.0
),
confidence
)
unique_fields:
- targetId
- targetFromSourceId
- diseaseId
- datasourceId
- diseaseFromSource
- studyId
- allelicRequirements
evidence_postprocess_cancer_biomarkers:
- name: pyspark evidence_postprocess
pyspark: evidence_postprocess
source:
evidence_path: intermediate/evidence/cancer_biomarkers.parquet
target_path: output/target
disease_path: output/disease
publication_date_lut: input/literature/literature_export