antonkulaga commited on
Commit
2c29dae
·
verified ·
1 Parent(s): b83a2ba

Add pharmgkb module (ported from Generation-I dna-seq/just_pharmgkb)

Browse files
data/pharmgkb/clin_sig_authority_calls.parquet ADDED
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  "name": "pharmgkb",
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  "display": {
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  "title": "Pharmacogenomics",
@@ -19,7 +20,9 @@
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  "curator": "ai-module-creator",
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  "method": "literature-review",
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- "rs11322783 allele CG: vrs_id ga4gh:VA.F3v_lEqvSi3_93m6iBnsYsGc7vfv8sSW could not be verified — CTT>CG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified.",
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- "rs11322783 allele CT: vrs_id ga4gh:VA.oP5cClGlw9R11DDh_FGUdUw7KwQAOndA could not be verified — CTT>CT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified.",
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- "rs72549303: vrs_id ga4gh:VA.xtTu0h437Gtu9jSFmnpgUKARsBHaDqMN could not be verified — GG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified."
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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  "sources": [
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  "clinpgx",
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  "ensembl"
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  "title": "Pharmacogenomics",
 
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  "curator": "ai-module-creator",
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  "method": "literature-review",
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  "license": "CC-BY-SA-4.0",
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  "authors": [],
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  "authorship": [
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  {
 
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  "variant_count": 0,
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+ "gene_count": 35,
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+ "genes": [
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+ "ABCG2",
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+ "ACE",
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+ "ADD1",
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+ "ADRB2",
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+ "ALDH2",
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+ "APOE",
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+ "ATIC",
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+ "CACNA1S",
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+ "CES1",
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+ "CFTR",
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+ "CHRNA5",
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+ "CYP2B6",
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+ "CYP3A4",
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+ "CYP4F2",
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+ "DPYD",
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+ "EGFR",
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+ "F2",
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+ "F5",
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+ "FCGR3A",
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+ "IFNL3",
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+ "IFNL3;IFNL4",
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+ "IFNL4",
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+ "ITPA",
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+ "MT-RNR1",
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+ "MTHFR",
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+ "NUDT15",
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+ "RYR1",
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+ "SCN1A",
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+ "SLC19A1",
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+ "SLC28A3",
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+ "SLCO1B1",
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+ "TNF",
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+ "UGT1A1",
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+ "VKORC1",
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+ "XRCC1"
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+ ],
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  "categories": [],
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  "clinvar_count": 0,
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  "pathogenic_count": 0,
 
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  },
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  "compilation": {
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  "compile_success": true,
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+ "compiled_by": "marketplace-server",
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+ "compiler_version": "just-dna-compiler 0.7.0",
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+ "ensembl_reference": "just-dna-seq/ensembl_variations",
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+ "compiled_at": "2026-09-26T23:45:19Z",
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  "warnings": [
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+ "1 allele(s): vrs_id could not be verified — A>ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1799752).",
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+ "1 allele(s): vrs_id could not be verified — ATGAA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs72549309).",
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+ "1 allele(s): vrs_id could not be verified — CTT>CG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs11322783 allele CG).",
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+ "1 allele(s): vrs_id could not be verified — CTT>CT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs11322783 allele CT).",
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+ "1 allele(s): vrs_id could not be verified — GG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs72549303).",
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+ "1 allele(s): vrs_id could not be verified — GGAG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs121918596).",
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+ "1 allele(s): vrs_id could not be verified — TCTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113993960 allele T).",
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+ "1 allele(s): vrs_id could not be verified — TCTT>TCTTCTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113993960 allele TCTTCTT).",
102
+ "This module records no closure: nothing in it states that authoring is finished, so a consumer cannot tell a spec still being edited from one its author considers done. Run `just-dna-compiler close <spec-dir>` when the module is complete — closing is a deliberate act, it is never stamped by a passing check, and editing any authored file afterwards drops the closure again. Compiling without one is a warning today; requiring it is filed for 1.0 (RM73).",
103
+ "1 gene cell(s) contain a list separator and are published as single gene names: 'IFNL3;IFNL4' (33 row(s)). `stats.genes` is what a registry's gene index reads, so a composite value becomes a gene nobody will search for, beside its parts. Nothing is split here — a composite may legitimately name the locus — so either give the row one symbol, or leave it and know the index will not find the module by either part."
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+ ],
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+ "carried": [
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+ "1 allele(s): vrs_id could not be verified — A>ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1799752).",
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+ "1 allele(s): vrs_id could not be verified — ATGAA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs72549309).",
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+ "1 allele(s): vrs_id could not be verified — CTT>CG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs11322783 allele CG).",
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+ "1 allele(s): vrs_id could not be verified — CTT>CT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs11322783 allele CT).",
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+ "1 allele(s): vrs_id could not be verified — GG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs72549303).",
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+ "1 allele(s): vrs_id could not be verified — GGAG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs121918596).",
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+ "1 allele(s): vrs_id could not be verified — TCTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113993960 allele T).",
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  ],
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  "clinpgx",
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+ "module_hash": "sha256:63c8df71c259269f05486a12c21e738361fc976cd9e25c045493b5293d463d7e",
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+ "producer": "just-dna-enricher 0.7.0",
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+ "checks": [
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+ "check": "clinical_significance",
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+ "producer": "just-dna-enricher 0.7.0"
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+ {
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+ "check": "dataset_currency",
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+ "subjects": 0,
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+ "skipped": "offline",
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+ "detail": "1 recorded release(s) unchecked (offline): clinpgx clinpgx_2025-07-05",
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+ "checked_at": "2026-09-26T23:45:18Z",
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+ "producer": "just-dna-enricher 0.7.0"
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+ {
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+ "check": "evidence_status_currency",
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+ "subjects": 0,
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+ "findings": 0,
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+ "skipped": "nothing_to_check",
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+ "detail": "this module records no citation drafted from CIViC's API, so there is no recorded curation status to re-ask about",
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+ "source": "civic",
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+ "release": null,
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+ "checked_at": "2026-09-26T23:45:18Z",
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+ "producer": "just-dna-enricher 0.7.0"
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+ "check": "genome_build_agreement",
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+ "detail": "the GRCh37 service is the only thing that can tell an old-assembly coordinate from a wrong ref, and there is no local GRCh37 data",
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+ "source": "ensembl-grch37",
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+ "skipped": "tautology",
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+ "detail": "ClinPGx evidence-level check not run: this module's licence row records that these annotations were drafted from clinpgx_2025-07-05, the snapshot this check reads, and every authored evidence_level still hashes to what the drafter wrote — so each is a copy of the value it would be compared against. Edit any of them and it runs again.",
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+ "source": "clinpgx",
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+ "release": null,
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+ "checked_at": "2026-09-26T17:22:57Z",
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+ "producer": "just-dna-enricher 0.7.2"
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+ "release": "civic_01-Sep-2026",
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+ "checked_at": "2026-09-26T23:45:18Z",
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+ "producer": "just-dna-enricher 0.7.0"
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+ "source": "seqrepo",
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+ "skipped": "nothing_to_check",
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+ "detail": "no row authors both an rsID and a coordinate, so the module makes no pair claim to compare — this is not a comparison that found nothing",
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+ "source": "ensembl",
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+ "release": null,
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+ "checked_at": "2026-09-26T23:45:18Z",
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+ "producer": "just-dna-enricher 0.7.0"
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+ "release": null,
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