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example metakb evidence line; moa assertion contained in larger metakb aggregation w/ normalized proposition entities
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| { | |
| "id": "metakb.assertion:8sjz1xj3a0Qjds5cNM47i0dSeSaTy4jw", | |
| "type": "Statement", | |
| "specifiedBy": { | |
| "id": "metakb.method:2026", | |
| "type": "Method", | |
| "name": "MetaKB (2026)", | |
| "reportedIn": { | |
| "type": "Document", | |
| "name": "Wagnerds et al", | |
| "title": "MetaKB v2", | |
| "doi": "10.1038/1111-1-1111-111-1111", | |
| "pmid": "9999999" | |
| } | |
| }, | |
| "proposition": { | |
| "type": "VariantTherapeuticResponseProposition", | |
| "subjectVariant": { | |
| "id": "metakb.cv:PSQ.VA.D6NzpWXKqBnbcZZrXNSXj4tMUwROKbsQ", | |
| "type": "CategoricalVariant", | |
| "name": "tmp name", | |
| "constraints": [ | |
| { | |
| "type": "DefiningAlleleConstraint", | |
| "allele": { | |
| "id": "ga4gh:VA.D6NzpWXKqBnbcZZrXNSXj4tMUwROKbsQ", | |
| "type": "Allele", | |
| "digest": "D6NzpWXKqBnbcZZrXNSXj4tMUwROKbsQ", | |
| "location": { | |
| "id": "ga4gh:SL.jGElwyBPYNWI-BkFFHKfgLJynt9zuNPs", | |
| "type": "SequenceLocation", | |
| "digest": "jGElwyBPYNWI-BkFFHKfgLJynt9zuNPs", | |
| "sequenceReference": { | |
| "type": "SequenceReference", | |
| "refgetAccession": "SQ.dmFigTG-0fY6I54swb7PoDuxCeT6O3Wg" | |
| }, | |
| "start": 314, | |
| "end": 315, | |
| "sequence": "T" | |
| }, | |
| "state": { | |
| "type": "LiteralSequenceExpression", | |
| "sequence": "I" | |
| } | |
| }, | |
| "relations": [ | |
| { | |
| "primaryCoding": { | |
| "system": "ga4gh-gks-term:allele-relation", | |
| "code": "liftover_to" | |
| } | |
| }, | |
| { | |
| "primaryCoding": { | |
| "system": "http://www.sequenceontology.org", | |
| "code": "translation_of" | |
| } | |
| } | |
| ] | |
| } | |
| ] | |
| }, | |
| "geneContextQualifier": { | |
| "id": "normalize.gene.hgnc:76", | |
| "conceptType": "Gene", | |
| "name": "ABL1", | |
| "primaryCoding": { | |
| "id": "hgnc:76", | |
| "system": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/", | |
| "code": "HGNC:76" | |
| } | |
| }, | |
| "predicate": "predictsResistanceTo", | |
| "objectTherapeutic": { | |
| "id": "normalize.therapy.rxcui:282388", | |
| "conceptType": "Therapy", | |
| "name": "imatinib", | |
| "primaryCoding": { | |
| "id": "rxcui:282388", | |
| "system": "https://mor.nlm.nih.gov/RxNav/search?searchBy=RXCUI&searchTerm=", | |
| "code": "282388" | |
| } | |
| }, | |
| "conditionQualifier": { | |
| "id": "normalize.disease.ncit:C3174", | |
| "conceptType": "Disease", | |
| "name": "Chronic Myeloid Leukemia, BCR-ABL1 Positive", | |
| "primaryCoding": { | |
| "id": "ncit:C3174", | |
| "system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=", | |
| "code": "C3174" | |
| } | |
| } | |
| }, | |
| "direction": "supports", | |
| "classification": { | |
| "id": "metakb.classification:1", | |
| "name": "tmp metakb tr classification", | |
| "primaryCoding": { | |
| "system": "AMP/ASCO/CAP (AAC) Guidelines, 2017", | |
| "code": "Tier I" | |
| } | |
| }, | |
| "hasEvidenceLines": [ | |
| { | |
| "type": "EvidenceLine", | |
| "hasEvidenceItems": [ | |
| { | |
| "id": "moa.assertion:66", | |
| "type": "Statement", | |
| "description": "T315I mutant ABL1 in p210 BCR-ABL cells resulted in retained high levels of phosphotyrosine at increasing concentrations of inhibitor STI-571, whereas wildtype appropriately received inhibition.", | |
| "specifiedBy": { | |
| "id": "moa.method:2021", | |
| "type": "Method", | |
| "name": "MOAlmanac (2021)", | |
| "reportedIn": { | |
| "type": "Document", | |
| "name": "Reardon, B., Moore, N.D., Moore, N.S. et al.", | |
| "title": "Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology", | |
| "doi": "10.1038/s43018-021-00243-3", | |
| "pmid": "35121878" | |
| } | |
| }, | |
| "reportedIn": [ | |
| { | |
| "id": "moa.source:45", | |
| "type": "Document", | |
| "extensions": [ | |
| { | |
| "name": "source_type", | |
| "value": "Journal" | |
| } | |
| ], | |
| "title": "Gorre, Mercedes E., et al. Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science 293.5531 (2001): 876-880.", | |
| "urls": [ | |
| "https://doi.org/10.1126/science.1062538" | |
| ], | |
| "doi": "10.1126/science.1062538", | |
| "pmid": "11423618" | |
| } | |
| ], | |
| "proposition": { | |
| "type": "VariantTherapeuticResponseProposition", | |
| "subjectVariant": { | |
| "id": "moa.variant:66", | |
| "type": "CategoricalVariant", | |
| "name": "ABL1 T315I", | |
| "extensions": [ | |
| { | |
| "name": "moa_representative_coordinate", | |
| "value": { | |
| "chromosome": "9", | |
| "start_position": "133748283", | |
| "end_position": "133748283", | |
| "reference_allele": "C", | |
| "alternate_allele": "T", | |
| "cdna_change": "c.944C>T", | |
| "protein_change": "p.T315I", | |
| "exon": "5" | |
| } | |
| }, | |
| { | |
| "name": "moa_feature_type", | |
| "value": "somatic_variant" | |
| }, | |
| { | |
| "name": "moa_variant_annotation", | |
| "value": "Missense" | |
| } | |
| ], | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "system": "https://www.ncbi.nlm.nih.gov/snp/", | |
| "code": "rs121913459" | |
| }, | |
| "relation": "relatedMatch" | |
| } | |
| ] | |
| }, | |
| "geneContextQualifier": { | |
| "id": "moa.gene:ABL1", | |
| "name": "ABL1" | |
| }, | |
| "predicate": "predictsResistanceTo", | |
| "objectTherapeutic": { | |
| "id": "moa.drug:Imatinib", | |
| "extensions": [ | |
| { | |
| "name": "moa_therapy_type", | |
| "value": "Targeted therapy" | |
| } | |
| ], | |
| "conceptType": "Drug", | |
| "name": "Imatinib" | |
| }, | |
| "conditionQualifier": { | |
| "id": "moa.disease:Chronic Myelogenous Leukemia", | |
| "conceptType": "Disease", | |
| "name": "Chronic Myelogenous Leukemia", | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "id": "oncotree:CML", | |
| "name": "Chronic Myelogenous Leukemia", | |
| "system": "https://oncotree.mskcc.org/?version=oncotree_latest_stable&field=CODE&search=", | |
| "code": "CML" | |
| }, | |
| "relation": "exactMatch" | |
| } | |
| ] | |
| } | |
| }, | |
| "direction": "supports", | |
| "strength": { | |
| "primaryCoding": { | |
| "system": "https://moalmanac.org/about", | |
| "code": "Preclinical evidence" | |
| }, | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "name": "preclinical evidence", | |
| "system": "https://go.osu.edu/evidence-codes", | |
| "code": "e000009" | |
| }, | |
| "relation": "exactMatch" | |
| } | |
| ] | |
| } | |
| } | |
| ], | |
| "directionOfEvidenceProvided": "supports" | |
| } | |
| ] | |
| } |
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