Closed bwalsh closed 6 months ago
Use case: As a BMEG ETL author, when I have a case record from GDC, I need to know what FHIR resources will be created. As a BMEG ETL engineer, before I can write code, I need a document that outlines the mapping decisions.
e.g.
High Level Mapping: project-> ResearchStudy sample, aliquot, portion ->Specimen disease->Condition diagnosis-> Observation, Encounter ? treatments -> MedicationAdministration files (urls TBD) -> DocumentReference -> DRS ?
Field Level: project.project_id-> ResearchStudy.identifier
Content Mapping: (ontology mapping) "Basal Cell Neoplasms" -> MONDO:???? "ethnicity": "not hispanic or latino", -> https://build.fhir.org/ig/HL7/US-Core/StructureDefinition-us-core-race.profile.json.html
{ "id": "3afa1e93-1df8-4e4c-aaa4-557463f4bb77", // FHIR: ResearchStudy.identifier "submitter_slide_ids": [. // FHIR: DocumentReference.identifier ? where are the urls? "TCGA-A7-A0DA-01Z-00-DX2", "TCGA-A7-A0DA-01Z-00-DX1", "TCGA-A7-A0DA-01A-03-TS3" ], "project": { // FHIR: ResearchStudy "primary_site": [ // FHIR: ResearchStudy. BodySite "Breast" ], "dbgap_accession_number": null, "project_id": "TCGA-BRCA", // FHIR: ResearchStudy.identifier "disease_type": [ // FHIR: ResearchStudy -> focus Condition "Basal Cell Neoplasms", "Complex Epithelial Neoplasms", "Adenomas and Adenocarcinomas", "Epithelial Neoplasms, NOS", "Ductal and Lobular Neoplasms", "Adnexal and Skin Appendage Neoplasms", "Fibroepithelial Neoplasms", "Cystic, Mucinous and Serous Neoplasms", "Squamous Cell Neoplasms" ], "name": "Breast Invasive Carcinoma", "releasable": true, "state": "open", "program": { "dbgap_accession_number": "phs000178", "program_id": "b80aa962-9650-5110-b3eb-bd087da808db", "name": "TCGA" }, "released": true }, "submitter_analyte_ids": [ //FHIR: Patient->Specimen "TCGA-A7-A0DA-01A-31W", "TCGA-A7-A0DA-01A-31D", "TCGA-A7-A0DA-10A-01D", "TCGA-A7-A0DA-01A-31R", "TCGA-A7-A0DA-10A-01W" ], "created_datetime": null, "diagnosis_ids": [ //Patient->Conditon, Diagnosis or Observation "d9e34d72-793c-5407-a421-eae9280c75b1" ], "updated_datetime": "2019-08-06T14:14:07.814612-05:00", "case_id": "3afa1e93-1df8-4e4c-aaa4-557463f4bb77", "state": "released", "portion_ids": [ //Specimen->Specimen "89cd779a-c1fc-4959-9985-fbc8f6bc0f88", "51866cc5-8c50-41fa-a490-f23b3adb541d", "253d0600-ba4c-467d-bab0-2b15e38e8339", "190fcd17-0d7a-4d28-9958-492d56360678", "dba0ceee-ecdd-4b46-b79c-0bed0553933d" ], "tissue_source_site": {. // Specimen.collection "tissue_source_site_id": "78ed6982-33ca-5062-85f6-9fb0fca095d9", "code": "A7", "name": "Christiana Healthcare", "project": "Breast invasive carcinoma", "bcr_id": "NCH" }, "submitter_portion_ids": [. //Specimen "TCGA-A7-A0DA-01A-11", "TCGA-A7-A0DA-10A-01", "TCGA-A7-A0DA-01A-41-A21W-30", "TCGA-A7-A0DA-01A-11-A13C-20", "TCGA-A7-A0DA-01A-31" ], "summary": { "file_count": 66, "data_categories": [ { "file_count": 4, "data_category": "Structural Variation" }, { "file_count": 17, "data_category": "Simple Nucleotide Variation" }, { "file_count": 6, "data_category": "Copy Number Variation" }, { "file_count": 4, "data_category": "Transcriptome Profiling" }, { "file_count": 3, "data_category": "DNA Methylation" }, { "file_count": 6, "data_category": "Sequencing Reads" }, { "file_count": 15, "data_category": "Biospecimen" }, { "file_count": 10, "data_category": "Clinical" }, { "file_count": 1, "data_category": "Proteome Profiling" } ], "experimental_strategies": [ { "file_count": 9, "experimental_strategy": "RNA-Seq" }, { "file_count": 19, "experimental_strategy": "WXS" }, { "file_count": 3, "experimental_strategy": "miRNA-Seq" }, { "file_count": 6, "experimental_strategy": "Genotyping Array" }, { "file_count": 3, "experimental_strategy": "Methylation Array" }, { "file_count": 2, "experimental_strategy": "Diagnostic Slide" }, { "file_count": 1, "experimental_strategy": "Tissue Slide" }, { "file_count": 1, "experimental_strategy": "Reverse Phase Protein Array" } ], "file_size": 97130551171 }, "slide_ids": [ "660a62a8-5f45-45e4-a850-f67c672b54ac", "cc3f16de-3078-4afc-8e52-ccd9e6592b86", "fec083e6-27fd-41ee-b44b-7bb1f9ec2d12" ], "disease_type": "Ductal and Lobular Neoplasms", "analyte_ids": [ "e5858da7-772a-4f52-a1b1-43932e48d65c", "e32ddaf6-666b-443e-996c-03280ca66881", "a1bd146e-d1db-4ed3-9aa8-934faaf05074", "fc66f7a2-0f47-4348-a334-0116cfb46507", "5ceb86fb-8f09-489c-ba5a-614dd335eaa8" ], "submitter_id": "TCGA-A7-A0DA", "aliquot_ids": [ "47723567-39d1-40e9-a8ea-1bf9548db03e", "c8638f56-52c7-4aab-9a57-f2318f44df97", "878337fe-9f41-44f5-9760-3977e7d75308", "013b8901-2f00-46f4-b864-0a5e7d4efa6c", "9d04c180-7c23-490e-92cf-c018629b8b7f", "72c79f9e-a770-4a6c-a0a4-655ad717463c", "8b368315-4ed7-432f-b3e5-8bff48b32293", "dd1d7840-21e5-4eb8-9795-91d0659cf8d9", "3ad9e1b0-8de8-44b5-92e6-5d70a70070cf", "91c8c373-e923-4e7f-b8b3-2417e92760c7", "31f208e7-dfcd-431e-9a78-765befdc6ccf" ], "submitter_aliquot_ids": [ "TCGA-A7-A0DA-01A-31W-A12T-09", "TCGA-A7-A0DA-01A-31D-A111-01", "TCGA-A7-A0DA-10A-01W-A12U-09", "TCGA-A7-A0DA-01A-31D-A10X-02", "TCGA-A7-A0DA-10A-01D-A10Z-02", "TCGA-A7-A0DA-10A-01D-A110-09", "TCGA-A7-A0DA-01A-31R-A114-13", "TCGA-A7-A0DA-01A-31D-A112-05", "TCGA-A7-A0DA-10A-01D-A113-01", "TCGA-A7-A0DA-01A-31R-A115-07", "TCGA-A7-A0DA-01A-31D-A10Y-09" ], "diagnoses": [ { "synchronous_malignancy": "No", "ajcc_pathologic_stage": "Stage IIA", "days_to_diagnosis": 0, "created_datetime": null, "treatments": [ { "days_to_treatment_end": null, "days_to_treatment_start": null, "treatment_id": "4be7a060-f8fa-5ff9-bda0-fa7cee7b3483", "submitter_id": "TCGA-A7-A0DA_treatment_1", "treatment_type": "Pharmaceutical Therapy, NOS", "regimen_or_line_of_therapy": null, "treatment_effect": null, "therapeutic_agents": null, "treatment_or_therapy": "yes", "created_datetime": "2019-04-28T13:32:45.312616-05:00", "initial_disease_status": null, "treatment_intent_type": null, "treatment_anatomic_site": null, "updated_datetime": "2019-07-31T21:18:16.285358-05:00", "treatment_outcome": null, "state": "released" }, { "treatment_intent_type": null, "updated_datetime": "2019-07-31T21:18:16.285358-05:00", "treatment_id": "5a022fde-a913-5e23-b1bd-4e861107c38d", "submitter_id": "TCGA-A7-A0DA_treatment", "treatment_type": "Radiation Therapy, NOS", "state": "released", "therapeutic_agents": null, "treatment_or_therapy": "yes", "created_datetime": null } ], "last_known_disease_status": "not reported", "tissue_or_organ_of_origin": "Breast, NOS", "days_to_last_follow_up": 1085, "age_at_diagnosis": 22708, "primary_diagnosis": "Infiltrating duct carcinoma, NOS", "updated_datetime": "2019-08-08T16:21:06.649374-05:00", "prior_malignancy": "no", "year_of_diagnosis": 2009, "state": "released", "prior_treatment": "No", "days_to_last_known_disease_status": null, "ajcc_pathologic_t": "T2", "days_to_recurrence": null, "morphology": "8500/3", "ajcc_pathologic_n": "N0 (i-)", "ajcc_pathologic_m": "M0", "submitter_id": "TCGA-A7-A0DA_diagnosis", "classification_of_tumor": "not reported", "diagnosis_id": "d9e34d72-793c-5407-a421-eae9280c75b1", "icd_10_code": "C50.9", "site_of_resection_or_biopsy": "Breast, NOS", "tumor_grade": "not reported", "progression_or_recurrence": "not reported" } ], "samples": [ { "sample_type_id": "01", "tumor_descriptor": null, "sample_id": "4f441e61-6bea-4a12-841d-def270804bbe", "sample_type": "Primary Tumor", "tumor_code": null, "created_datetime": null, "time_between_excision_and_freezing": null, "composition": null, "updated_datetime": "2018-11-15T21:38:54.195821-06:00", "days_to_collection": 177, "state": "released", "initial_weight": 350, "preservation_method": null, "portions": [ { "portion_id": "190fcd17-0d7a-4d28-9958-492d56360678", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "center": { "code": "20", "center_id": "a35fab26-d715-5e48-9563-6cd6b189b989", "name": "MD Anderson - RPPA Core Facility (Proteomics)", "namespace": "mdanderson.org", "short_name": "MDA", "center_type": "CGCC" }, "weight": null, "submitter_id": "TCGA-A7-A0DA-01A-11-A13C-20", "creation_datetime": 1300752000, "state": "released", "portion_number": "11", "is_ffpe": false, "created_datetime": null }, { "portion_id": "253d0600-ba4c-467d-bab0-2b15e38e8339", "updated_datetime": "2021-07-13T16:15:40.505763-05:00", "submitter_id": "TCGA-A7-A0DA-01A-11", "state": "released", "created_datetime": "2020-08-31T15:21:12.837885-05:00" }, { "portion_id": "51866cc5-8c50-41fa-a490-f23b3adb541d", "analytes": [ { "amount": null, "aliquots": [ { "amount": null, "aliquot_id": "8b368315-4ed7-432f-b3e5-8bff48b32293", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "09", "center_id": "956ca84c-1124-53ff-824f-fa0c84425425", "name": "Washington University School of Medicine", "namespace": "genome.wustl.edu", "short_name": "WUSM", "center_type": "GSC" }, "submitter_id": "TCGA-A7-A0DA-01A-31W-A12T-09", "concentration": 0.5, "state": "released", "analyte_type_id": null, "created_datetime": null } ], "submitter_id": "TCGA-A7-A0DA-01A-31W", "concentration": null, "analyte_type_id": "W", "created_datetime": null, "analyte_id": "a1bd146e-d1db-4ed3-9aa8-934faaf05074", "well_number": null, "analyte_type": "Repli-G (Qiagen) DNA", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "spectrophotometer_method": null, "state": "released", "a260_a280_ratio": null }, { "amount": null, "aliquots": [ { "amount": null, "aliquot_id": "013b8901-2f00-46f4-b864-0a5e7d4efa6c", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "02", "center_id": "c8611490-4cbd-5651-8de2-64484a515eec", "name": "Harvard Medical School", "namespace": "hms.harvard.edu", "short_name": "HMS", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-01A-31D-A10X-02", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null }, { "amount": null, "aliquot_id": "878337fe-9f41-44f5-9760-3977e7d75308", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "09", "center_id": "956ca84c-1124-53ff-824f-fa0c84425425", "name": "Washington University School of Medicine", "namespace": "genome.wustl.edu", "short_name": "WUSM", "center_type": "GSC" }, "submitter_id": "TCGA-A7-A0DA-01A-31D-A10Y-09", "concentration": 0.08, "state": "released", "analyte_type_id": null, "created_datetime": null }, { "amount": null, "aliquot_id": "91c8c373-e923-4e7f-b8b3-2417e92760c7", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "01", "center_id": "5069ce55-a23f-57c4-a28c-70a3c3cb0e4c", "name": "Broad Institute of MIT and Harvard", "namespace": "broad.mit.edu", "short_name": "BI", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-01A-31D-A111-01", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null }, { "amount": null, "aliquot_id": "dd1d7840-21e5-4eb8-9795-91d0659cf8d9", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "05", "center_id": "7ef3885b-37ce-5e16-8ba3-9d75b6690008", "name": "Johns Hopkins / University of Southern California", "namespace": "jhu-usc.edu", "short_name": "JHU_USC", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-01A-31D-A112-05", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null } ], "submitter_id": "TCGA-A7-A0DA-01A-31D", "concentration": 0.15, "analyte_type_id": "D", "created_datetime": null, "analyte_id": "e5858da7-772a-4f52-a1b1-43932e48d65c", "well_number": null, "analyte_type": "DNA", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "spectrophotometer_method": "UV Spec", "state": "released", "a260_a280_ratio": 1.97 }, { "amount": null, "aliquots": [ { "amount": null, "aliquot_id": "9d04c180-7c23-490e-92cf-c018629b8b7f", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "07", "center_id": "ee7a85b3-8177-5d60-a10c-51180eb9009c", "name": "University of North Carolina", "namespace": "unc.edu", "short_name": "UNC", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-01A-31R-A115-07", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null }, { "amount": null, "aliquot_id": "c8638f56-52c7-4aab-9a57-f2318f44df97", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T10:30:18.223905-06:00", "center": { "code": "13", "center_id": "6eba705a-0f00-5aa2-b1d0-04dbf62100cc", "name": "Canada's Michael Smith Genome Sciences Centre", "namespace": "bcgsc.ca", "short_name": "BCGSC", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-01A-31R-A114-13", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null } ], "submitter_id": "TCGA-A7-A0DA-01A-31R", "concentration": 0.15, "analyte_type_id": "R", "created_datetime": null, "analyte_id": "fc66f7a2-0f47-4348-a334-0116cfb46507", "well_number": null, "analyte_type": "RNA", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "spectrophotometer_method": "UV Spec", "state": "released", "a260_a280_ratio": 1.98 } ], "slides": [ { "percent_stromal_cells": 47, "submitter_id": "TCGA-A7-A0DA-01A-03-TS3", "section_location": "TOP", "percent_tumor_cells": 30, "number_proliferating_cells": null, "slide_id": "fec083e6-27fd-41ee-b44b-7bb1f9ec2d12", "percent_eosinophil_infiltration": null, "created_datetime": null, "percent_inflam_infiltration": null, "percent_neutrophil_infiltration": 0, "percent_lymphocyte_infiltration": 2, "percent_granulocyte_infiltration": null, "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "percent_necrosis": 3, "percent_normal_cells": 20, "percent_monocyte_infiltration": 0, "state": "released", "percent_tumor_nuclei": 75 } ], "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "weight": 30, "submitter_id": "TCGA-A7-A0DA-01A-31", "creation_datetime": 1292284800, "state": "released", "portion_number": "31", "is_ffpe": false, "created_datetime": null }, { "portion_id": "89cd779a-c1fc-4959-9985-fbc8f6bc0f88", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "center": { "code": "30", "center_id": "9a5b07b4-68f3-5d62-8fb6-b96903561b43", "name": "Washington University School of Medicine Proteomics", "namespace": "genome.wustl.edu", "short_name": "WUSM", "center_type": "CGCC" }, "weight": null, "submitter_id": "TCGA-A7-A0DA-01A-41-A21W-30", "creation_datetime": 1333411200, "state": "released", "portion_number": "41", "is_ffpe": false, "created_datetime": null } ], "intermediate_dimension": null, "time_between_clamping_and_freezing": null, "freezing_method": null, "pathology_report_uuid": "69AC5937-3FFD-40FB-9922-79DB3CED7510", "submitter_id": "TCGA-A7-A0DA-01A", "tumor_code_id": null, "shortest_dimension": null, "oct_embedded": "false", "days_to_sample_procurement": null, "longest_dimension": null, "current_weight": null, "is_ffpe": false, "tissue_type": "Not Reported" }, { "sample_type_id": "01", "sample_id": "6d250ffa-8365-4c5a-90ee-fa7f447a6071", "submitter_id": "TCGA-A7-A0DA-01Z", "sample_type": "Primary Tumor", "created_datetime": "2018-05-17T12:10:31.746556-05:00", "oct_embedded": "No", "updated_datetime": "2018-11-15T21:10:03.529893-06:00", "days_to_sample_procurement": 0, "state": "released", "is_ffpe": true, "tissue_type": "Not Reported", "preservation_method": "FFPE", "portions": [ { "portion_id": "6d9dc38a-af71-5a43-a57d-5221a18f488e", "slides": [ { "updated_datetime": "2018-08-23T19:24:29.874737-05:00", "submitter_id": "TCGA-A7-A0DA-01Z-00-DX1", "section_location": "Not Reported", "state": "released", "slide_id": "660a62a8-5f45-45e4-a850-f67c672b54ac", "created_datetime": "2018-05-17T13:32:38.220752-05:00" } ] }, { "portion_id": "0e3cfb35-43e2-543e-b24c-7f5f62c2f937", "slides": [ { "updated_datetime": "2018-08-23T19:24:29.874737-05:00", "submitter_id": "TCGA-A7-A0DA-01Z-00-DX2", "section_location": "Not Reported", "state": "released", "slide_id": "cc3f16de-3078-4afc-8e52-ccd9e6592b86", "created_datetime": "2018-05-17T13:34:27.834235-05:00" } ] } ] }, { "sample_type_id": "10", "tumor_descriptor": null, "sample_id": "bb28c682-0071-4642-bab6-768b0fc322c6", "sample_type": "Blood Derived Normal", "tumor_code": null, "created_datetime": null, "time_between_excision_and_freezing": null, "composition": null, "updated_datetime": "2018-11-15T21:38:54.195821-06:00", "days_to_collection": 177, "state": "released", "initial_weight": null, "preservation_method": null, "portions": [ { "portion_id": "dba0ceee-ecdd-4b46-b79c-0bed0553933d", "analytes": [ { "amount": null, "aliquots": [ { "amount": null, "aliquot_id": "31f208e7-dfcd-431e-9a78-765befdc6ccf", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T11:57:18.467265-06:00", "center": { "code": "02", "center_id": "c8611490-4cbd-5651-8de2-64484a515eec", "name": "Harvard Medical School", "namespace": "hms.harvard.edu", "short_name": "HMS", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-10A-01D-A10Z-02", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null }, { "amount": null, "aliquot_id": "47723567-39d1-40e9-a8ea-1bf9548db03e", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T11:57:18.467265-06:00", "center": { "code": "09", "center_id": "956ca84c-1124-53ff-824f-fa0c84425425", "name": "Washington University School of Medicine", "namespace": "genome.wustl.edu", "short_name": "WUSM", "center_type": "GSC" }, "submitter_id": "TCGA-A7-A0DA-10A-01D-A110-09", "concentration": 0.08, "state": "released", "analyte_type_id": null, "created_datetime": null }, { "amount": null, "aliquot_id": "72c79f9e-a770-4a6c-a0a4-655ad717463c", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T11:57:18.467265-06:00", "center": { "code": "01", "center_id": "5069ce55-a23f-57c4-a28c-70a3c3cb0e4c", "name": "Broad Institute of MIT and Harvard", "namespace": "broad.mit.edu", "short_name": "BI", "center_type": "CGCC" }, "submitter_id": "TCGA-A7-A0DA-10A-01D-A113-01", "concentration": 0.15, "state": "released", "analyte_type_id": null, "created_datetime": null } ], "submitter_id": "TCGA-A7-A0DA-10A-01D", "concentration": 0.15, "analyte_type_id": "D", "created_datetime": null, "analyte_id": "5ceb86fb-8f09-489c-ba5a-614dd335eaa8", "well_number": null, "analyte_type": "DNA", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "spectrophotometer_method": "UV Spec", "state": "released", "a260_a280_ratio": 1.97 }, { "amount": null, "aliquots": [ { "amount": null, "aliquot_id": "3ad9e1b0-8de8-44b5-92e6-5d70a70070cf", "source_center": "23", "analyte_type": null, "updated_datetime": "2018-11-27T11:57:18.467265-06:00", "center": { "code": "09", "center_id": "956ca84c-1124-53ff-824f-fa0c84425425", "name": "Washington University School of Medicine", "namespace": "genome.wustl.edu", "short_name": "WUSM", "center_type": "GSC" }, "submitter_id": "TCGA-A7-A0DA-10A-01W-A12U-09", "concentration": 0.5, "state": "released", "analyte_type_id": null, "created_datetime": null } ], "submitter_id": "TCGA-A7-A0DA-10A-01W", "concentration": null, "analyte_type_id": "W", "created_datetime": null, "analyte_id": "e32ddaf6-666b-443e-996c-03280ca66881", "well_number": null, "analyte_type": "Repli-G (Qiagen) DNA", "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "spectrophotometer_method": null, "state": "released", "a260_a280_ratio": null } ], "updated_datetime": "2018-09-06T13:49:20.245333-05:00", "weight": null, "submitter_id": "TCGA-A7-A0DA-10A-01", "creation_datetime": 1273795200, "state": "released", "portion_number": "01", "is_ffpe": false, "created_datetime": null } ], "intermediate_dimension": null, "time_between_clamping_and_freezing": null, "freezing_method": null, "pathology_report_uuid": null, "submitter_id": "TCGA-A7-A0DA-10A", "tumor_code_id": null, "shortest_dimension": null, "oct_embedded": "false", "days_to_sample_procurement": null, "longest_dimension": null, "current_weight": null, "is_ffpe": false, "tissue_type": "Not Reported" } ], "sample_ids": [ "bb28c682-0071-4642-bab6-768b0fc322c6", "6d250ffa-8365-4c5a-90ee-fa7f447a6071", "4f441e61-6bea-4a12-841d-def270804bbe" ], "demographic": { // Patient(us-core extensions) + Observation maybe "race": "white", "gender": "female", "ethnicity": "not hispanic or latino", "vital_status": "Alive", "age_at_index": 62, "submitter_id": "TCGA-A7-A0DA_demographic", "days_to_birth": -22708, "created_datetime": null, "year_of_birth": 1947, "demographic_id": "fb49b217-29cd-5368-8589-b46f2b3fe2ef", "updated_datetime": "2019-07-31T21:18:16.285358-05:00", "state": "released", "year_of_death": null }, "submitter_sample_ids": [ "TCGA-A7-A0DA-10A", "TCGA-A7-A0DA-01A", "TCGA-A7-A0DA-01Z" ], "exposures": [. //Observation -> Patient { "cigarettes_per_day": null, "alcohol_history": "Not Reported", "updated_datetime": "2019-07-31T21:18:16.285358-05:00", "exposure_id": "a7d2ea16-132a-51ad-be10-bfee634165ee", "submitter_id": "TCGA-A7-A0DA_exposure", "years_smoked": null, "state": "released", "created_datetime": null, "alcohol_intensity": null } ], "primary_site": "Breast", "submitter_diagnosis_ids": [ "TCGA-A7-A0DA_diagnosis" ] }
handled via https://github.com/bmeg/fhirizer
Use case: As a BMEG ETL author, when I have a case record from GDC, I need to know what FHIR resources will be created. As a BMEG ETL engineer, before I can write code, I need a document that outlines the mapping decisions.
e.g.
High Level Mapping: project-> ResearchStudy sample, aliquot, portion ->Specimen disease->Condition diagnosis-> Observation, Encounter ? treatments -> MedicationAdministration files (urls TBD) -> DocumentReference -> DRS ?
Field Level: project.project_id-> ResearchStudy.identifier
Content Mapping: (ontology mapping) "Basal Cell Neoplasms" -> MONDO:???? "ethnicity": "not hispanic or latino", -> https://build.fhir.org/ig/HL7/US-Core/StructureDefinition-us-core-race.profile.json.html