Add superhuman module
Browse files
data/superhuman/annotations.parquet
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@@ -1,3 +1,3 @@
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version https://git-lfs.github.com/spec/v1
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oid sha256:
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size
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version https://git-lfs.github.com/spec/v1
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oid sha256:6d8b6b0870674732b0e5f3d9b5fb26f87d06cb7f1ea1b6c6589d28b8553a37e3
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size 19
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data/superhuman/manifest.json
CHANGED
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@@ -2,201 +2,63 @@
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"manifest_version": "1.0",
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"schema_version": "1.0",
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"identity": {
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"namespace":
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"name": "
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"version": "2.
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"version_coerced_from": null,
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"canonical_id":
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},
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"display": {
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"title": "
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"description": "
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"report_title": "
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"icon": "
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"icon_set": "fomantic",
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"color": "#
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},
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| 19 |
"genome_build": "GRCh38",
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"curator":
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"method":
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"license": null,
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"authority_precedence": [],
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"weighting": null,
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"owner":
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"authors": [],
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"authorship": [],
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"created_at": null,
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"published_at":
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"stats": {
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"variant_count":
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| 32 |
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"weights_rows":
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| 33 |
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"study_count":
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| 34 |
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"gene_count":
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| 35 |
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"genes": [
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| 36 |
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"ABCC11",
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| 37 |
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"APOA2",
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| 38 |
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"APOE",
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| 39 |
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"APOL1",
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| 40 |
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"APP",
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| 41 |
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"BDNF",
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| 42 |
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"CCR5",
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| 43 |
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"CETP",
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| 44 |
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"CFTR",
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| 45 |
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"COMT",
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| 46 |
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"FAAH",
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| 47 |
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"FUT2",
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| 48 |
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"GHR",
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| 49 |
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"GRIK4",
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| 50 |
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"HSD17B13",
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| 51 |
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"IFIH1",
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| 52 |
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"IL23R",
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| 53 |
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"LRP5",
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| 54 |
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"MSTN",
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| 55 |
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"NPSR1",
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| 56 |
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"NTRK1",
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| 57 |
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"PCSK9",
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| 58 |
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"PDE10A",
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| 59 |
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"PRNP",
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| 60 |
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"RIMS1",
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| 61 |
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"SCN9A",
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| 62 |
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"SLC30A8",
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| 63 |
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"TPH2"
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| 64 |
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],
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| 65 |
"categories": [],
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| 66 |
"clinvar_count": 0,
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| 67 |
"pathogenic_count": 0,
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| 68 |
"benign_count": 0
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| 69 |
},
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"compilation": {
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-
"compile_success":
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| 72 |
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"compiled_by":
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| 73 |
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"compiler_version":
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| 74 |
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"ensembl_reference":
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| 75 |
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"compiled_at":
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| 76 |
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"warnings": [
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| 77 |
-
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| 78 |
-
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| 79 |
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"2 allele(s): vrs_id could not be verified — AA>AAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAA, rs587783021 allele AAA).",
|
| 80 |
-
"1 allele(s): vrs_id could not be verified — A>AA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs142802827).",
|
| 81 |
-
"1 allele(s): vrs_id could not be verified — A>AAGA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs555947867).",
|
| 82 |
-
"1 allele(s): vrs_id could not be verified — AA>AAAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAAA).",
|
| 83 |
-
"1 allele(s): vrs_id could not be verified — AACTTA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele A).",
|
| 84 |
-
"1 allele(s): vrs_id could not be verified — AACTTA>AACTTAACTTA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele AACTTAACTTA).",
|
| 85 |
-
"1 allele(s): vrs_id could not be verified — ACAG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1558104865).",
|
| 86 |
-
"1 allele(s): vrs_id could not be verified — AG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1655825221).",
|
| 87 |
-
"1 allele(s): vrs_id could not be verified — CA>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1799770).",
|
| 88 |
-
"1 allele(s): vrs_id could not be verified — CG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1648170217).",
|
| 89 |
-
"1 allele(s): vrs_id could not be verified — CTG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs398122810).",
|
| 90 |
-
"1 allele(s): vrs_id could not be verified — GA>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1553478584).",
|
| 91 |
-
"1 allele(s): vrs_id could not be verified — GCCCGAGAGCATCCTGTACCGTAAGTTC>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs756614200).",
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| 92 |
-
"1 allele(s): vrs_id could not be verified — GGGTGTCTGCGCCT>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1571696060).",
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| 93 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele G).",
|
| 94 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTG).",
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| 95 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTG).",
|
| 96 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTG).",
|
| 97 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTG).",
|
| 98 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTG).",
|
| 99 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTG).",
|
| 100 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTG).",
|
| 101 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTG).",
|
| 102 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTG).",
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| 103 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTG).",
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| 104 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 105 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 106 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 107 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 108 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 109 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 110 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 111 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 112 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
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| 113 |
-
"1 allele(s): vrs_id could not be verified — T>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs886061718).",
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| 114 |
-
"1 allele(s): vrs_id could not be verified — TA>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1574856736).",
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| 115 |
-
"1 allele(s): vrs_id could not be verified — TC>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs80356675).",
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| 116 |
-
"1 allele(s): vrs_id could not be verified — TT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele T).",
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| 117 |
-
"1 allele(s): vrs_id could not be verified — TT>TTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele TTT).",
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| 118 |
-
"1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele T).",
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| 119 |
-
"1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>TTAAAAAAGTTTTAAAAAAGTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele TTAAAAAAGTTTTAAAAAAGTTT).",
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| 120 |
-
"1 allele(s): vrs_id could not be verified — TTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele T).",
|
| 121 |
-
"1 allele(s): vrs_id could not be verified — TTT>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TT).",
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| 122 |
-
"1 allele(s): vrs_id could not be verified — TTT>TTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TTTT).",
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| 123 |
-
"VRS allele identity covers 90/111 allele(s) in resolution.csv (81%) — 21 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
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| 124 |
-
" 21 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)",
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| 125 |
-
"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).",
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| 126 |
-
"2 genotype(s) at 1 site(s) have no row: a heterozygous genotype has no row, so a carrier matches nothing in this module. The module states two or more genotypes at each of those sites, so this is a gap in a set the author started rather than a rule that fires once — e.g. rs17822931 C/G; rs17822931 C/T",
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| 127 |
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"19 genotype(s) at 19 site(s) have no row: the reference homozygote has no row, so a subject carrying neither alternate matches nothing in this module. The module states two or more genotypes at each of those sites, so this is a gap in a set the author started rather than a rule that fires once — e.g. rs11209026 G/G; rs12105165 G/G; rs121908668 G/G (+16 more)"
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| 128 |
-
],
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| 129 |
-
"carried": [
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| 130 |
-
"3 allele(s): vrs_id could not be verified — CT>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1363364803, rs1553473041, rs1571699945).",
|
| 131 |
-
"2 allele(s): vrs_id could not be verified — AA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele A, rs587783021 allele A).",
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| 132 |
-
"2 allele(s): vrs_id could not be verified — AA>AAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAA, rs587783021 allele AAA).",
|
| 133 |
-
"1 allele(s): vrs_id could not be verified — A>AA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs142802827).",
|
| 134 |
-
"1 allele(s): vrs_id could not be verified — A>AAGA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs555947867).",
|
| 135 |
-
"1 allele(s): vrs_id could not be verified — AA>AAAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAAA).",
|
| 136 |
-
"1 allele(s): vrs_id could not be verified — AACTTA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele A).",
|
| 137 |
-
"1 allele(s): vrs_id could not be verified — AACTTA>AACTTAACTTA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele AACTTAACTTA).",
|
| 138 |
-
"1 allele(s): vrs_id could not be verified — ACAG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1558104865).",
|
| 139 |
-
"1 allele(s): vrs_id could not be verified — AG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1655825221).",
|
| 140 |
-
"1 allele(s): vrs_id could not be verified — CA>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1799770).",
|
| 141 |
-
"1 allele(s): vrs_id could not be verified — CG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1648170217).",
|
| 142 |
-
"1 allele(s): vrs_id could not be verified — CTG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs398122810).",
|
| 143 |
-
"1 allele(s): vrs_id could not be verified — GA>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1553478584).",
|
| 144 |
-
"1 allele(s): vrs_id could not be verified — GCCCGAGAGCATCCTGTACCGTAAGTTC>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs756614200).",
|
| 145 |
-
"1 allele(s): vrs_id could not be verified — GGGTGTCTGCGCCT>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1571696060).",
|
| 146 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele G).",
|
| 147 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTG).",
|
| 148 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTG).",
|
| 149 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTG).",
|
| 150 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTG).",
|
| 151 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTG).",
|
| 152 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTG).",
|
| 153 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTG).",
|
| 154 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTG).",
|
| 155 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTG).",
|
| 156 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 157 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 158 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 159 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 160 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 161 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 162 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 163 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 164 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 165 |
-
"1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
|
| 166 |
-
"1 allele(s): vrs_id could not be verified — T>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs886061718).",
|
| 167 |
-
"1 allele(s): vrs_id could not be verified — TA>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1574856736).",
|
| 168 |
-
"1 allele(s): vrs_id could not be verified — TC>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs80356675).",
|
| 169 |
-
"1 allele(s): vrs_id could not be verified — TT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele T).",
|
| 170 |
-
"1 allele(s): vrs_id could not be verified — TT>TTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele TTT).",
|
| 171 |
-
"1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele T).",
|
| 172 |
-
"1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>TTAAAAAAGTTTTAAAAAAGTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele TTAAAAAAGTTTTAAAAAAGTTT).",
|
| 173 |
-
"1 allele(s): vrs_id could not be verified — TTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele T).",
|
| 174 |
-
"1 allele(s): vrs_id could not be verified — TTT>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TT).",
|
| 175 |
-
"1 allele(s): vrs_id could not be verified — TTT>TTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TTTT).",
|
| 176 |
-
"VRS allele identity covers 90/111 allele(s) in resolution.csv (81%) — 21 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
|
| 177 |
-
" 21 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)"
|
| 178 |
-
],
|
| 179 |
-
"warnings_summary": {
|
| 180 |
-
"genotype_coverage_gap": 2,
|
| 181 |
-
"module_not_closed": 1,
|
| 182 |
-
"vrs_coverage_incomplete": 2,
|
| 183 |
-
"vrs_id_unverifiable": 46
|
| 184 |
-
},
|
| 185 |
"dropped_rows": {},
|
| 186 |
-
"resolution_mode":
|
| 187 |
-
"fully_resolved":
|
| 188 |
-
"resolution_subjects":
|
| 189 |
-
"expanded_keys":
|
| 190 |
-
"expanded_rows":
|
| 191 |
-
"resolution_signature":
|
| 192 |
-
"resolution_sources": [
|
| 193 |
-
|
| 194 |
-
|
| 195 |
-
|
| 196 |
-
"
|
| 197 |
-
"vrs_alleles_identified": 90,
|
| 198 |
-
"positional_rows": 0,
|
| 199 |
-
"positional_rows_placed": 0
|
| 200 |
},
|
| 201 |
"frequency": null,
|
| 202 |
"gene_metrics": null,
|
|
@@ -204,286 +66,21 @@
|
|
| 204 |
"clinical_assertions": null,
|
| 205 |
"gwas_effects": null,
|
| 206 |
"expression_effects": null,
|
| 207 |
-
"literature":
|
| 208 |
-
"signature": "sha256:d7789ba0aea024938db3bc8f24083b2fd4dc8521ba4b6c711279c320a800496e",
|
| 209 |
-
"sources": [
|
| 210 |
-
"pubmed"
|
| 211 |
-
],
|
| 212 |
-
"row_count": 29,
|
| 213 |
-
"resolved_count": 29,
|
| 214 |
-
"missing_count": 0,
|
| 215 |
-
"open_access_count": 6,
|
| 216 |
-
"abstract_only_count": 0,
|
| 217 |
-
"quotes_authored": 0,
|
| 218 |
-
"quotes_found": 0,
|
| 219 |
-
"quotes_unchecked": 29
|
| 220 |
-
},
|
| 221 |
"clin_sig_concordance": null,
|
| 222 |
-
"sources":
|
| 223 |
-
|
| 224 |
-
|
| 225 |
-
|
| 226 |
-
"ensembl"
|
| 227 |
-
],
|
| 228 |
-
"layers": [
|
| 229 |
-
"resolution"
|
| 230 |
-
],
|
| 231 |
-
"licenses": [
|
| 232 |
-
"Apache-2.0",
|
| 233 |
-
"public-domain"
|
| 234 |
-
],
|
| 235 |
-
"attributions": [
|
| 236 |
-
"ClinVar, NCBI (https://www.ncbi.nlm.nih.gov/clinvar/)",
|
| 237 |
-
"Ensembl (https://www.ensembl.org)"
|
| 238 |
-
],
|
| 239 |
-
"notices": [
|
| 240 |
-
"US-government work, no copyright asserted. NCBI asks that ClinVar be cited and states the records are submitter assertions, not a clinical diagnosis."
|
| 241 |
-
],
|
| 242 |
-
"share_alike_layers": [],
|
| 243 |
-
"noncommercial_layers": [],
|
| 244 |
-
"unknown_terms_sources": [],
|
| 245 |
-
"nonredistributable_layers": [],
|
| 246 |
-
"declared_uses": [
|
| 247 |
-
"unstated"
|
| 248 |
-
],
|
| 249 |
-
"commercial_use": true,
|
| 250 |
-
"redistribution": true,
|
| 251 |
-
"row_count": 2
|
| 252 |
-
},
|
| 253 |
-
"verification": {
|
| 254 |
-
"signature": "sha256:d3a428ab0e65192bc9629dbec032a58aaaa6762542d50995283659f5ed05b173",
|
| 255 |
-
"module_hash": "sha256:36afef1aa8e8ffaf96b1fc173db59105a5c16314a1cd06df52eb91b1edf8224a",
|
| 256 |
-
"producer": "just-dna-enricher 0.7.0",
|
| 257 |
-
"produced_at": "2026-09-26T23:45:05Z",
|
| 258 |
-
"closure": null,
|
| 259 |
-
"checks": [
|
| 260 |
-
{
|
| 261 |
-
"check": "citation_existence",
|
| 262 |
-
"subjects": 29,
|
| 263 |
-
"findings": 0,
|
| 264 |
-
"skipped": null,
|
| 265 |
-
"detail": null,
|
| 266 |
-
"source": "pubmed",
|
| 267 |
-
"release": null,
|
| 268 |
-
"checked_at": "2026-09-26T22:42:19Z",
|
| 269 |
-
"producer": "just-dna-enricher 0.7.2"
|
| 270 |
-
},
|
| 271 |
-
{
|
| 272 |
-
"check": "citation_identifier",
|
| 273 |
-
"subjects": 0,
|
| 274 |
-
"findings": 0,
|
| 275 |
-
"skipped": "nothing_to_check",
|
| 276 |
-
"detail": "none of 29 citation(s) carries an authored DOI or PMC id, so there was nothing to compare against PubMed's own",
|
| 277 |
-
"source": "pubmed",
|
| 278 |
-
"release": null,
|
| 279 |
-
"checked_at": "2026-09-26T22:42:19Z",
|
| 280 |
-
"producer": "just-dna-enricher 0.7.2"
|
| 281 |
-
},
|
| 282 |
-
{
|
| 283 |
-
"check": "clinical_significance",
|
| 284 |
-
"subjects": 0,
|
| 285 |
-
"findings": 0,
|
| 286 |
-
"skipped": null,
|
| 287 |
-
"detail": null,
|
| 288 |
-
"source": "clinvar",
|
| 289 |
-
"release": "clinvar_2026-06-27",
|
| 290 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 291 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 292 |
-
},
|
| 293 |
-
{
|
| 294 |
-
"check": "dataset_currency",
|
| 295 |
-
"subjects": 0,
|
| 296 |
-
"findings": 0,
|
| 297 |
-
"skipped": "nothing_to_check",
|
| 298 |
-
"detail": "the module records no release, so it makes no claim about where its rows came from",
|
| 299 |
-
"source": null,
|
| 300 |
-
"release": null,
|
| 301 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 302 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 303 |
-
},
|
| 304 |
-
{
|
| 305 |
-
"check": "evidence_status_currency",
|
| 306 |
-
"subjects": 0,
|
| 307 |
-
"findings": 0,
|
| 308 |
-
"skipped": "nothing_to_check",
|
| 309 |
-
"detail": "this module records no citation drafted from CIViC's API, so there is no recorded curation status to re-ask about",
|
| 310 |
-
"source": "civic",
|
| 311 |
-
"release": null,
|
| 312 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 313 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 314 |
-
},
|
| 315 |
-
{
|
| 316 |
-
"check": "genome_build_agreement",
|
| 317 |
-
"subjects": 0,
|
| 318 |
-
"findings": 0,
|
| 319 |
-
"skipped": "offline",
|
| 320 |
-
"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",
|
| 321 |
-
"source": "ensembl-grch37",
|
| 322 |
-
"release": null,
|
| 323 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 324 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 325 |
-
},
|
| 326 |
-
{
|
| 327 |
-
"check": "provenance_quote",
|
| 328 |
-
"subjects": 0,
|
| 329 |
-
"findings": 0,
|
| 330 |
-
"skipped": "nothing_to_check",
|
| 331 |
-
"detail": "no provenance quote or regex on any citation, so none of them asked this question",
|
| 332 |
-
"source": "europepmc",
|
| 333 |
-
"release": null,
|
| 334 |
-
"checked_at": "2026-09-26T22:42:19Z",
|
| 335 |
-
"producer": "just-dna-enricher 0.7.2"
|
| 336 |
-
},
|
| 337 |
-
{
|
| 338 |
-
"check": "published_refutation",
|
| 339 |
-
"subjects": 0,
|
| 340 |
-
"findings": 0,
|
| 341 |
-
"skipped": null,
|
| 342 |
-
"detail": "no authored direction sits beside a published refutation (basis accepted)",
|
| 343 |
-
"source": "civic",
|
| 344 |
-
"release": "civic_01-Sep-2026",
|
| 345 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 346 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 347 |
-
},
|
| 348 |
-
{
|
| 349 |
-
"check": "reference_allele",
|
| 350 |
-
"subjects": 0,
|
| 351 |
-
"findings": 0,
|
| 352 |
-
"skipped": "offline",
|
| 353 |
-
"detail": "no sequence access this run, so no authored ref was compared",
|
| 354 |
-
"source": "seqrepo",
|
| 355 |
-
"release": null,
|
| 356 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 357 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 358 |
-
},
|
| 359 |
-
{
|
| 360 |
-
"check": "rsid_coordinate_agreement",
|
| 361 |
-
"subjects": 0,
|
| 362 |
-
"findings": 0,
|
| 363 |
-
"skipped": "nothing_to_check",
|
| 364 |
-
"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",
|
| 365 |
-
"source": "ensembl",
|
| 366 |
-
"release": null,
|
| 367 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 368 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 369 |
-
},
|
| 370 |
-
{
|
| 371 |
-
"check": "rsid_currency",
|
| 372 |
-
"subjects": 0,
|
| 373 |
-
"findings": 0,
|
| 374 |
-
"skipped": "not_requested",
|
| 375 |
-
"detail": null,
|
| 376 |
-
"source": "dbsnp",
|
| 377 |
-
"release": null,
|
| 378 |
-
"checked_at": "2026-09-26T23:45:05Z",
|
| 379 |
-
"producer": "just-dna-enricher 0.7.0"
|
| 380 |
-
}
|
| 381 |
-
]
|
| 382 |
-
},
|
| 383 |
-
"inputs": [
|
| 384 |
-
{
|
| 385 |
-
"name": "module_spec.yaml",
|
| 386 |
-
"sha256": "sha256:2733c2a14ba30b0638bd054aeb4a7a5f51113dc49d50a02713da4c7f5c39226d",
|
| 387 |
-
"size": 426
|
| 388 |
-
},
|
| 389 |
-
{
|
| 390 |
-
"name": "variants.csv",
|
| 391 |
-
"sha256": "sha256:b619a806ad0321db7fbe7876e7fcb7487d2f889f288acf4fbd4e388885400eac",
|
| 392 |
-
"size": 14025
|
| 393 |
-
},
|
| 394 |
-
{
|
| 395 |
-
"name": "studies.csv",
|
| 396 |
-
"sha256": "sha256:a730fff7b1a55da571cf89426497502ca4824a010c175bee92e9ec9aad8851c5",
|
| 397 |
-
"size": 8971
|
| 398 |
-
}
|
| 399 |
-
],
|
| 400 |
-
"content_signature": "sha256:edacf509e48c2c9500d2869102ae5e60e5dbe3842a012650d17f9f18636926aa",
|
| 401 |
"artifact": {
|
| 402 |
-
"digest": "sha256:
|
| 403 |
-
"files": [
|
| 404 |
-
{
|
| 405 |
-
"name": "weights.parquet",
|
| 406 |
-
"sha256": "sha256:2df994356900b5e9e6407b4028f4562b802ea129ea173750660c6243441db570",
|
| 407 |
-
"size": 16441
|
| 408 |
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},
|
| 409 |
-
{
|
| 410 |
-
"name": "annotations.parquet",
|
| 411 |
-
"sha256": "sha256:ff15d7ce3531b84ed3d1c395b9b6c4639dccff3ec37afff34bafd07500216367",
|
| 412 |
-
"size": 6189
|
| 413 |
-
},
|
| 414 |
-
{
|
| 415 |
-
"name": "studies.parquet",
|
| 416 |
-
"sha256": "sha256:861ded4397e023b7cec845f60d377b65c372b3c6935e2a13250d1d2e233708bc",
|
| 417 |
-
"size": 9468
|
| 418 |
-
},
|
| 419 |
-
{
|
| 420 |
-
"name": "literature.parquet",
|
| 421 |
-
"sha256": "sha256:3b8ca0aa6eb39da96d48c75250583effdf80fa69f332cce36bcb0d9a64b23811",
|
| 422 |
-
"size": 7239
|
| 423 |
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},
|
| 424 |
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{
|
| 425 |
-
"name": "clin_sig_concordance.parquet",
|
| 426 |
-
"sha256": "sha256:0611079ba1ae139bf1b1c3038d0f784a798747436c88275b47e6e986d10fe9a6",
|
| 427 |
-
"size": 919
|
| 428 |
-
},
|
| 429 |
-
{
|
| 430 |
-
"name": "clin_sig_authority_calls.parquet",
|
| 431 |
-
"sha256": "sha256:233b40fd79c7da73a9989ef4f7442886fd11d4495fbab9fe3a8d630855c9a1d4",
|
| 432 |
-
"size": 1138
|
| 433 |
-
},
|
| 434 |
-
{
|
| 435 |
-
"name": "sources.parquet",
|
| 436 |
-
"sha256": "sha256:c4e2a2af5b57555f22d38d6aeebb32bf1d7ab02c37b050ae696d576dc9f5fc5f",
|
| 437 |
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