Q (sonnet): How many unique patients have both primary and metastatic samples in the MSK-CHORD Study? ▶ read_guide { "uri": "cbioportal://sample-filtering-guide" } ▶ list_studies { "search": "MSK-CHORD" } ◀ result # Sample and Study Filtering Guide ## Overview Proper filtering is essential for meaningful cBioPortal analysis. This guide covers filtering by studies, sample types, and other criteria. ## Study-Level Filtering ### 1. Always Filter by Study Every query should specify a study to ensure consistent results: ```sql -- Always include study filtering SELECT * FROM your_table WHERE cancer_study_identifier = 'your_study_id' -- Additional filters... ``` ### 2. Find Available Studies ```sql -- Discover available studies SELECT cancer_study_identifier, name, description, type_of_cancer_id FROM cancer_study ORDER BY cancer_study_identifier; ``` ### 3. Study Information ```sql -- Get detailed study information SELECT cs.cancer_study_identifier, cs.name as study_name, cs.description, cs.sample_count, COUNT(DISTINCT p.internal_id) as patient_count FROM cancer_study cs LEFT JOIN patient p ON cs.cancer_study_id = p.cancer_study_id WHERE cs.cancer_study_identifier = 'your_study_id' GROUP BY cs.cancer_study_identifier, cs.name, cs.description, cs.sample_count; ``` ### 4. Find Studies by Available Data Types Use this when the user asks *"which studies have mutation and copy-number data for X"*, *"studies with expression for Y"*, *"is there any imaging data"*, or any *"studies with Z data"* question. `cancer_study` has one precomputed sample count per data type — filter on them. No join and no schema exploration needed. These are the same counts as the portal's study list and its "Data type" filter. **Canonical query — studies with ALL requested data types for a cancer type:** ```sql SELECT cancer_study_identifier, name, sample_count, mutation_sample_count, cna_sample_count FROM cancer_study WHERE type_of_cancer_id = 'luad' -- ← OncoTree code from search_oncotree AND mutation_sample_count > 0 -- ← one condition per required data type AND cna_sample_count > 0 ORDER BY sample_count DESC; ``` **Data type → column** (a count of 0 means the study doesn't have that data): | Data type in the user's question | Column (portal "Data type" filter label) | |---|---| | samples in the study | `sample_count` | | mutation / mutations | `mutation_sample_count` ("Mutations") | | copy-number / CNA / amplification / deletion | `cna_sample_count` ("CNA") | | structural variant / fusion | `structural_variant_sample_count` | | RNA / mRNA / gene expression (any platform) | `mrna_expression_sample_count` — use this for "which studies have expression data" | | specifically the portal's "RNA-Seq" filter | `rna_seq_sample_count` ("RNA-Seq") — counts only the `_rna_seq_v2_mrna` list; 0 for many GDC and iAtlas studies that do have RNA-Seq | | specifically the portal's "RNA (microarray)" filter | `mrna_microarray_sample_count` ("RNA (microarray)") — counts only the `_mrna` list | | microRNA | `mirna_sample_count` ("miRNA") | | protein / RPPA | `rppa_sample_count` ("RPPA") | | mas … (7866 more chars) ◀ result {"result":[{"cancer_study_identifier":"msk_chord_2024","name":"MSK-CHORD (MSK, Nature 2024)","type_of_cancer_id":"mixed","sample_count":25040,"has_guide":true,"url":"https://www.cbioportal.org/study/summary?id=msk_chord_2024"}]} ▶ get_study_guide { "study_id": "msk_chord_2024" } ◀ result # MSK-CHORD (MSK, Nature 2024) **Study ID:** `msk_chord_2024` ## Overview Targeted sequencing via MSK-IMPACT panels. Clinical annotations include some derived from natural language processing (denoted NLP). **Exactly five cancer types** (`CANCER_TYPE`, patients): Non-Small Cell Lung Cancer 7,809, Colorectal Cancer 5,543, Breast Cancer 5,368, Prostate Cancer 3,211, Pancreatic Cancer 3,109. There is **no melanoma** or any other cancer type; say so up front if asked, instead of substituting another type. **No therapy-response variable.** There is no RECIST, objective response, or best-response attribute or event. For treatment-outcome questions (e.g. immunotherapy response), say this first; the only proxies are `OS_MONTHS`/`OS_STATUS`, or NLP radiology progression events (`Diagnosis` events with `SUBTYPE = 'Progression'`, key `PROGRESSION` = Y/N/Indeterminate), in patients with `Treatment` events of the relevant `SUBTYPE` (e.g. `Immuno`: 3,341 patients). Hand off the comparison to cBioPortal group comparison / survival. **Nearly one sample per patient: 24,950 patients / 25,040 samples.** Only 90 patients have more than one sample, and all 90 have samples from two different cancer types (second primaries); only 26 have both a `Primary` and a `Metastasis` sample. There is no meaningful same-patient (paired) primary-vs-metastasis cohort. For "same patient" / paired questions, say this up front, then offer the **unpaired** comparison of all `Primary` vs `Metastasis` samples (`SAMPLE_TYPE`), labelled as unpaired. ```sql SELECT countIf(n > 1) AS multi_sample_patients, -- 90 countIf(has_p AND has_m) AS primary_and_met -- 26 FROM (SELECT patient_unique_id, count() AS n, has(groupArray(attribute_value), 'Primary') AS has_p, has(groupArray(attribute_value), 'Metastasis') AS has_m FROM clinical_data_derived WHERE cancer_study_identifier = 'msk_chord_2024' AND attribute_name = 'SAMPLE_TYPE' GROUP BY patient_unique_id); ``` ## Gene Panels This study uses multiple MSK-IMPACT panel versions: - **IMPACT341**: Earlier version, 341 genes - **IMPACT410**: 410 genes - **IMPACT468**: 468 genes - **IMPACT505**: Latest version, 505 genes **Important:** Different samples may have different gene coverage. Always use gene-specific denominators when calculating mutation frequencies. ## Clinical Attributes - Semantic Guide ### Cancer Classification | Attribute | Description | Values | |-----------|-------------|--------| | `CANCER_TYPE` | Broad cancer category | e.g., "Non-Small Cell Lung Cancer", "Breast Cancer" | | `CANCER_TYPE_DETAILED` | Specific subtype | e.g., "Lung Adenocarcinoma", "Invasive Ductal Carcinoma" | | `ONCOTREE_CODE` | OncoTree classification code | Standardized cancer type codes | ### Sample Information | Attribute | Description | Values | |-----------|-------------|--------| | `SAMPLE_TYPE` | Sample origin | Primary, Metastasis, Local Recurrence, Unknown | | `SAMPLE_CLASS` | Sample … (5439 more chars) ▶ clickhouse_run_select_query { "query": "SELECT attribute_value as sample_type, COUNT(DISTINCT sample_unique_id) as sample_count, COUNT(DISTINCT patient_unique_id) as patient_count FROM clinical_data_derived WHERE cancer_study_identifier = 'msk_chord_2024' AND attribute_name = 'SAMPLE_TYPE' GROUP BY attribute_value ORDER BY sample_count DESC" } ◀ result {"rows":[{"sample_type":"Primary","sample_count":15928,"patient_count":15872},{"sample_type":"Metastasis","sample_count":8878,"patient_count":8872},{"sample_type":"Unknown","sample_count":136,"patient_count":136},{"sample_type":"Local Recurrence","sample_count":98,"patient_count":98}]} ▶ clickhouse_run_select_query { "query": "SELECT countIf(n > 1) AS multi_sample_patients, countIf(has_p AND has_m) AS primary_and_met FROM (SELECT patient_unique_id, count() AS n, has(groupArray(attribute_value), 'Primary') AS has_p, has(groupArray(attribute_value), 'Metastasis') AS has_m FROM clinical_data_derived WHERE cancer_study_identifier = 'msk_chord_2024' AND attribute_name = 'SAMPLE_TYPE' GROUP BY patient_unique_id)" } ◀ result {"rows":[{"multi_sample_patients":90,"primary_and_met":26}]} ▶ resolve_and_route { "studyIds": [ "msk_chord_2024" ] } ◀ result {"success":true,"message":"Found 1 study. Use the metadata to call the appropriate navigation tool(s).","data":{"totalCount":1,"studiesWithMetadata":[{"studyId":"msk_chord_2024","name":"MSK-CHORD (MSK, Nature 2024)","sampleCount":25040,"studyViewUrl":"https://www.cbioportal.org/study?id=msk_chord_2024","metadata":{"clinicalAttributeIds":["ADRENAL_GLANDS","BONE","CANCER_TYPE","CANCER_TYPE_DETAILED","CLINICAL_GROUP","CLINICAL_SUMMARY","CNS_BRAIN","CURRENT_AGE_DEID","DIAGNOSIS_DESCRIPTION","ETHNICITY","FRACTION_GENOME_ALTERED","GENDER","GENE_PANEL","GLEASON_FIRST_REPORTED","GLEASON_HIGHEST_REPORTED","GLEASON_SAMPLE_LEVEL","HER2","HISTORY_OF_PDL1","HR","ICD_O_HISTOLOGY_DESCRIPTION","INTRA_ABDOMINAL","LIVER","LUNG","LYMPH_NODES","METASTATIC_SITE","MSI_COMMENT","MSI_SCORE","MSI_TYPE","MUTATION_COUNT","NUM_ICDO_DX","ONCOTREE_CODE","OS_MONTHS","OS_STATUS","OTHER","PATHOLOGICAL_GROUP","PDL1_POSITIVE","PLEURA","PRIMARY_SITE","PRIOR_MED_TO_MSK","RACE","REPRODUCTIVE_ORGANS","SAMPLE_CLASS","SAMPLE_COUNT","SAMPLE_COVERAGE","SAMPLE_TYPE","SMOKING_PREDICTIONS_3_CLASSES","SOMATIC_STATUS","STAGE_HIGHEST_RECORDED","TMB_NONSYNONYMOUS","TUMOR_PURITY"],"molecularProfileIds":["msk_chord_2024_cna","msk_chord_2024_mutations","msk_chord_2024_structural_variants"],"availableComparisonTabs":["overlap","clinical","survival","alterations","mutations"]}}]}} ▶ navigate_to_group_comparison { "studyIds": [ "msk_chord_2024" ], "groups": [ { "name": "Primary", "studyViewFilter": { "clinicalDataFilters": [ { "attributeId": "SAMPLE_TYPE", "values": [ { "value": "Primary" } ] } ] } }, { "name": "Metastasis", "studyViewFilter": { "clinicalDataFilters": [ { "attributeId": "SAMPLE_TYPE", "values": [ { "value": "Metastasis" } ] } ] } } ], "tab": "clinical" } ◀ result {"success":true,"message":"Navigating to https://www.cbioportal.org/comparison/clinical?comparisonId=6ab49e90c2115c492d884a5c","url":"https://www.cbioportal.org/comparison/clinical?comparisonId=6ab49e90c2115c492d884a5c","data":{"description":"Group comparison (2 custom groups)","studies":["msk_chord_2024"],"totalGroups":2,"groups":[{"name":"Primary","sampleCount":15928},{"name":"Metastasis","sampleCount":8878}],"studyViewUrl":"https://www.cbioportal.org/study?id=msk_chord_2024","groupUrls":[{"groupName":"Primary","url":"https://www.cbioportal.org/study?id=msk_chord_2024#filterJson=%7B%22clinicalDataFilters%22%3A%5B%7B%22attributeId%22%3A%22SAMPLE_TYPE%22%2C%22values%22%3A%5B%7B%22value%22%3A%22Primary%22%7D%5D%7D%5D%7D"},{"groupName":"Metastasis","url":"https://www.cbioportal.org/study?id=msk_chord_2024#filterJson=%7B%22clinicalDataFilters%22%3A%5B%7B%22attributeId%22%3A%22SAMPLE_TYPE%22%2C%22values%22%3A%5B%7B%22value%22%3A%22Metastasis%22%7D%5D%7D%5D%7D"}],"pageDescription":"Clinical attribute distributions compared across Primary (15928) vs Metastasis (8878)."}} ═ answer (success) [Compare Primary vs Metastasis samples (unpaired)](https://www.cbioportal.org/comparison/clinical?comparisonId=6ab49e90c2115c492d884a5c) — Primary (15,928 samples) vs. Metastasis (8,878 samples), noting this is an unpaired, largely different-patient comparison, not the 26-patient paired cohort.