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lipidmetabolism 2.0.0: 2026 evidence rebuild of the Generation I expert module (O. Borysova). Adds every independent genome-wide-significant lead of the largest 2021-2026 GWAS for the trait plus functional variants, with evidence tiers (S-D); errors in the original rows corrected with recorded reasons (provenance in logs/authoring.log); gnomAD v4.1 frequencies; closed. Built with just-dna-compiler main a05cd54.

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data/lipidmetabolism/README.md ADDED
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+ # Lipid Metabolism (v2.0.0)
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+
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+ Which versions of your DNA shift blood cholesterol, triglycerides and lipoprotein(a), the blood fats
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+ that drive narrowing of the arteries. Each result is one small piece of a picture that a routine blood
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+ lipid test (and, once in life, an Lp(a) test) shows directly. Nothing here is a diagnosis.
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+
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+ Original expert curation: **Olga Borysova** (v1.x, 15 variants). v2.0.0 is an AI-assisted evidence
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+ rebuild (2026-11-03) that keeps every one of her rows unchanged and adds the 2021–2026 GWAS and
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+ functional-variant evidence described below. No human has reviewed the v2.0.0 additions yet.
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+
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+ ## What is in the module
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+
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+ | Group (`method` column) | Variants | Genotype rows | Source |
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+ |---|---|---|---|
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+ | Legacy, expert-curated (`expert-curated`, curator `just-dna-seq`) | 15 | 45 | O. Borysova, v1.1.0 |
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+ | Tier A — LDL-C / triglyceride GWAS index variants (`gwas-index-beta`) | 1,016 | 3,048 | Graham et al. 2021, *Nature* (GLGC, 1.65 M people, five ancestry groups), PMID 34887591 |
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+ | Tier A — Lp(a) conditionally independent variants in *LPA* (`gwas-conditional-beta`) | 21 | 63 | Sinnott-Armstrong et al. 2021, *Nat Genet* (UK Biobank), PMID 33462484 |
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+ | Tier B — functional / high-impact variants (`published-OR`) | 10 | 30 | PMIDs 29020353, 16554528, 24941081, 20032323, 28506971 |
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+ | **Total** | **1,062** | **3,186** | 45 papers, 1,102 `studies.csv` rows, 854 gene labels |
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+
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+ Of the 1,016 Tier A variants, 802 are multi-ancestry index variants for LDL-C or triglycerides, and
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+ 214 are HDL-C index variants kept because the same variant also reaches p < 5×10⁻⁸ for LDL-C or
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+ triglycerides. Across all 1,016, 430 are scored on LDL-C and 586 on triglycerides.
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+
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+ ### Selection rule (Tier A)
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+
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+ 1. **LDL-C and triglycerides — all of them.** Every multi-ancestry index variant with genome-wide
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+ significance (MR-MEGA p < 5×10⁻⁸) flagged `independent = yes` in GLGC 2021 Supplementary Table 5,
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+ for LDL-C (416) or log-triglycerides (461): 843 unique variants. No subsampling.
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+ 2. **HDL-C only where it also moves a causal lipid.** HDL-C index variants (461 not already in step 1)
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+ are kept only if the same variant has p < 5×10⁻⁸ for LDL-C or triglycerides in the GLGC
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+ multi-ancestry summary statistics (GWAS Catalog harmonised files GCST90239655 / GCST90239661), or
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+ for ApoB in any GWAS Catalog association: 225 qualified (via LDL-C/TG; none via ApoB alone),
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+ **236 excluded**, because raising HDL-C has not been shown to lower heart risk.
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+ 3. **Non-HDL-C and total-cholesterol-only index variants (445) are not included** (outside the rule;
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+ decision for a human).
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+ 4. **One set of rows per variant.** When a variant is significant for both LDL-C and triglycerides, the
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+ weight uses the trait with the larger |β|; the other trait is mentioned in the conclusion and
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+ recorded in `studies.csv`. 46 variants move LDL-C and triglycerides in opposite directions and carry
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+ `flags = pleiotropic`.
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+ 5. **Lp(a):** the 22 conditionally independent genome-wide significant variants mapped to *LPA* in
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+ GWAS Catalog GCST90019513; rs3798220 is authored once, in Tier B. These are joint-model
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+ (conditional) effects and carry `flags = conditional`.
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+ 6. **Legacy overlap:** where a GWAS index variant equals one of Olga Borysova's rsIDs (rs12740374,
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+ rs676210, rs429358, rs7412, rs1800961), her rows are kept and the GWAS evidence is added to
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+ `studies.csv` only.
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+
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+ ### Tier B
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+
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+ | Gene | Variant | Effect allele | Published effect (CHD) | PMID |
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+ |---|---|---|---|---|
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+ | PCSK9 | R46L (rs11591147) | T | OR 0.77 per allele | 29020353 (also 16554528) |
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+ | PCSK9 | Y142X (rs67608943), C679X (rs28362286) | G, A | HR 0.11 (carriers of either) | 16554528 |
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+ | APOC3 | R19X (rs76353203), IVS2+1G>A (rs138326449), IVS3+1G>T (rs140621530), A43T (rs147210663) | T, A, T, A | OR 0.60 (carriers of any) | 24941081 (also 34548093) |
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+ | LPA | rs10455872, rs3798220 | G, C | OR 1.70, 1.92 per allele | 20032323 |
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+ | CETP | IVS14+1G>A (rs5742907) | A | OR 0.70 (PTV carriers; 0.69 in Japanese) | 28506971 |
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+ | APOE | ε2/ε4 (rs7412 / rs429358) | — | Olga Borysova's legacy rows, unchanged | — |
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+
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+ Aggregate (carrier-of-any) estimates are applied to each variant in the group. ANGPTL3 and LPL
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+ loss-of-function alleles were **not** authored as Tier B rows: the primary studies (PMID 28538136 for
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+ ANGPTL3, OR 0.59; PMID 28267856 for LPL) report pooled carrier estimates for many ultra-rare alleles
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+ without per-variant effect alleles. The ANGPTL3 and LPL loci are represented by their Tier A index
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+ variants and by the legacy LPL rows (rs328, rs268).
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+
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+ ## Weights — the module mixes three scales
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+
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+ Positive = favourable, negative = risk; a homozygote for the non-effect allele scores 0.0 (`neutral`).
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+
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+ * **Legacy rows** — Olga Borysova's curator-set values in [−3, 3].
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+ * **Tier A rows** — `weight = −β × copies`, β in standard-deviation units of the trait per effect
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+ allele (GLGC: inverse-normal-transformed LDL-C or log-TG, METAL fixed-effect β; UK Biobank: SD of
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+ Lp(a)). Most rows are between 0.005 and 0.2 per copy.
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+ * **Tier B rows** — `weight = −ln(OR) × copies` for coronary heart disease, capped to [−3, 3]
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+ (the PCSK9 nonsense homozygote rows hit the cap).
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+
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+ A summed "net weight" across this module is dominated by about a thousand tiny Tier A rows. It is **not**
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+ a validated polygenic score and is not comparable with any other module. The `weighting:` block in
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+ `module_spec.yaml` says the same.
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+
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+ ## What this module does not duplicate
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+
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+ The ClinVar **cardio** module (just_dna_seq/cardio 2.0.0) already reports ClinVar pathogenic and
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+ likely-pathogenic variants for monogenic familial hypercholesterolaemia (*LDLR*, *LDLRAP1*). None of
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+ those rsIDs is authored here (all 1,062 candidates were checked against its 37,901 rsIDs; no overlap was
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+ found), and *APOB*/*PCSK9* gain-of-function FH variants are not added. Read the two modules together.
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+
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+ ## Limits
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+
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+ * GWAS effects are averages from mostly European samples (1.32 M of 1.65 M in GLGC; 273 k of 284 k
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+ in the Lp(a) study). Frequencies quoted in conclusions are estimated from the study's allele
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+ frequency under Hardy–Weinberg proportions.
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+ * 124 strand-ambiguous (A/T, C/G) Tier A SNPs were kept because their effect-allele frequency is
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+ outside 0.40–0.60 and the GWAS Catalog harmonised GRCh38 file reports them on the forward strand
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+ (harmonisation codes 1, 2, 5 or 6); no gnomAD frequency table was produced in this enrichment run, so
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+ this orientation is not independently confirmed (provisional). 21 others were dropped.
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+ * 24 indels were dropped because the study's allele spelling did not match the Ensembl GRCh38 record.
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+ * Lp(a) per-variant effects are conditional on each other and on nearby variants and should not be
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+ added up as if independent.
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+ * Conclusions were written from templates for the Tier A rows; the module-voice lay-reader and
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+ scientific reviews have not been run yet.
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+
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+ ## Sources
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+
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+ Graham SE et al. *The power of genetic diversity in genome-wide association studies of lipids.*
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+ Nature 2021 (PMID 34887591; Supplementary Table 5 = `41586_2021_4064_MOESM4_ESM.xlsx`, sheet
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+ "ST.5 Multiancestry Results"; GWAS Catalog GCST90239649/55/61). Sinnott-Armstrong N et al. *Genetics of
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+ 35 blood and urine biomarkers in the UK Biobank.* Nat Genet 2021 (PMID 33462484; GCST90019513). Tier B
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+ papers as in the table above. Searches for 2023–2026 lipid, ApoB and Lp(a) GWAS (PubMed, Europe PMC,
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+ web) found no larger multi-ancestry LDL-C/TG meta-analysis with a published index-variant table; the
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+ 2025 GLGC review (PMID 39602359) summarises the consortium's results as over 923 loci from more than
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+ 1.65 million individuals, i.e. the 2021 study used here.
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+
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+ ## Changelog
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+
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+ * **2.0.0** (2026-11-03, AI-assisted) — tiered evidence rebuild (Tier A GWAS, Tier B functional,
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+ legacy kept), `weighting:` declared, authorship recorded.
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+ * 1.1.0 — Olga Borysova's expert-curated module (15 variants).
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+
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+ ## Evidence tiers
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+
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+ Every variant carries an evidence tier in `flags` (`tier:S` … `tier:D`) and in `priority`
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+ (S = high, A = medium, B/C/D = low). The tier never changes `weight`. Most variants in this module are
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+ weak signals, so the top tier is **S**, kept for the few variants that matter on their own. New (2026) rows
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+ also start their conclusion with the tier's label.
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+
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+ | Tier | Meaning | Variants (of which legacy) |
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+ |---|---|---|
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+ | S | Strong evidence: an effect large enough to matter on its own (OR/HR ≥ 1.5 or ≤ 0.67, or ≥ 0.5 SD), robustly supported | 10 (1) |
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+ | A | Well established, small effect (research grade): genome-wide significant in the anchor GWAS and in ≥ 1 further publication, same direction | 341 (11) |
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+ | B | Single-study signal, small effect (research grade): genome-wide significant in the anchor GWAS only | 711 (3) |
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+ | C | Early evidence (research only): not genome-wide significant for this trait | 0 (0) |
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+ | D | Not supported: contradicted, or null in large GWAS / meta-analysis | 0 (0) |
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+
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+ S holds the variants that move a lipid by half a standard deviation or more, or change coronary risk by 1.5-fold or more: APOE ε2, the PCSK9 and APOC3 loss-of-function alleles and the main LPA variants. Replication was read from the GWAS Catalog (REST v2, retrieved 2026-11-03; cohorts of different
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+ publications may overlap). `also_in:<module>` marks the 29 variants that also appear in another just-dna
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+ module. Summing weights across modules counts those twice. The rules are adapted from the Longevity Map v2
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+ requirements (`docs/longevitymap_v2/`).
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+
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+ ## Corrections to the original expert-curated rows
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+
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+ The 2026 audit of the Generation I content (Supplementary Table S14 of the Just-DNA-Lite paper) found errors that were still present in v1.1.0. Version 2.0.0 corrects them, changing only the cell that was wrong. Each change is recorded with its reason in `provenance.json` and `logs/authoring.log`.
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+
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+ | Variant | Genotype | Field | What was wrong |
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+ |---|---|---|---|
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+ | rs429358 | C/T | conclusion | the conclusion ended mid-sentence ('Some studies') |
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+
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+ ### Gene column for GWAS rows
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+
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+ The GWAS index variants' gene cell names the HGNC gene the variant lies in (33 variants), or the nearest HGNC protein-coding gene when it is within 100 kb (13 variants, flag `gene:nearest`). Otherwise the cell is blank (28 variants), with the nearest gene and its distance in `flags` (`nearest_gene:`, `nearest_kb:`). Neither is a claim that the gene causes the effect. The anchor study's own label is kept as `gwas_label:`.
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+ 2026-11-04T07:36:42Z authored rs429358 conclusion='C/T: You are a carrier of unfavourable C-allele in rs429358, which ia a part of e4 APOE genotype estimation. If your genotype also harbors the...' (judged; no value from the row's own conclusion and the module's other genotype rows to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:30Z authored rs1883783 gene='SSBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:32Z authored rs186538116 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:35Z authored rs115292790 gene='STXBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:37Z authored rs1689797 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:40Z authored rs1689801 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:45Z authored rs1434282 gene='LINC01221' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:47Z authored rs59770119 gene='LYPLAL1-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:49Z authored rs508293 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:54Z authored rs553427 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:56Z authored rs557933 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:45:58Z authored rs11679703 gene='LINC00299' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:46:01Z authored rs759257847 gene='LINC01808' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:46:04Z authored rs114040256 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:46:19Z authored rs1883783 gene='SSBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:21Z authored rs186538116 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:23Z authored rs115292790 gene='STXBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:26Z authored rs1689797 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:28Z authored rs1689801 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:30Z authored rs1434282 gene='LINC01221' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:32Z authored rs59770119 gene='LYPLAL1-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:35Z authored rs508293 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:37Z authored rs553427 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:39Z authored rs557933 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:42Z authored rs11679703 gene='LINC00299' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:44Z authored rs759257847 gene='LINC01808' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:46Z authored rs114040256 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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+ 2026-11-04T08:46:49Z authored rs191450029 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:46:51Z authored rs116500366 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:46:53Z authored rs4665495 gene='LINC01830' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:46:57Z authored rs11889451 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:00Z authored rs17050272 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:02Z authored rs954244 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:05Z authored rs11688682 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:07Z authored rs563563230 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:10Z authored rs6430090 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:12Z authored rs7571848 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:15Z authored rs2203452 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:17Z authored rs2972145 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+ 2026-11-04T08:47:20Z authored rs9831084 gene='EPM2AIP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
41
+ 2026-11-04T08:47:23Z authored rs79287178 gene='LINC02068' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
42
+ 2026-11-04T08:47:26Z authored rs71610255 gene='USP53' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
43
+ 2026-11-04T08:47:28Z authored rs26008 gene='FNIP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
44
+ 2026-11-04T08:47:30Z authored rs11167778 gene='SPRY4-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
45
+ 2026-11-04T08:47:33Z authored rs6924805 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
46
+ 2026-11-04T08:47:35Z authored rs12189754 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
47
+ 2026-11-04T08:47:38Z authored rs635769 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
48
+ 2026-11-04T08:47:41Z authored rs17585887 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
49
+ 2026-11-04T08:47:43Z authored rs36126113 gene='LINC02941' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
50
+ 2026-11-04T08:47:45Z authored rs2283038 gene='HBP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
51
+ 2026-11-04T08:47:47Z authored rs2921064 gene='LINC02950' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
52
+ 2026-11-04T08:47:50Z authored rs4739514 gene='LINC01605' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
53
+ 2026-11-04T08:47:52Z authored rs9298506 gene='RP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
54
+ 2026-11-04T08:47:55Z authored rs6471886 gene='LINC01301' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
55
+ 2026-11-04T08:47:57Z authored rs400824 gene='ZBTB10' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
56
+ 2026-11-04T08:48:00Z authored rs6473280 gene='FABP4' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
57
+ 2026-11-04T08:48:02Z authored rs1561929 gene='LINC00824' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
58
+ 2026-11-04T08:48:04Z authored rs2773513 gene='GLDC' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
59
+ 2026-11-04T08:48:06Z authored rs10961056 gene='LINC01235' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
60
+ 2026-11-04T08:48:09Z authored rs1590404 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
61
+ 2026-11-04T08:48:11Z authored rs543458 gene='NFIB' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
62
+ 2026-11-04T08:48:13Z authored rs7864568 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
63
+ 2026-11-04T08:48:16Z authored rs11789974 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
64
+ 2026-11-04T08:48:19Z authored rs72619338 gene='RXRA' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
65
+ 2026-11-04T08:48:21Z authored rs10827239 gene='NRP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
66
+ 2026-11-04T08:48:23Z authored rs4934932 gene='NRP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
67
+ 2026-11-04T08:48:26Z authored rs776902938 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
68
+ 2026-11-04T08:48:29Z authored rs117288140 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
69
+ 2026-11-04T08:48:32Z authored rs11045171 gene='PDE3A' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
70
+ 2026-11-04T08:48:34Z authored rs11045172 gene='PDE3A' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
71
+ 2026-11-04T08:48:37Z authored rs7132434 gene='SSPN-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
72
+ 2026-11-04T08:48:40Z authored rs275179 gene='LINC02694' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
73
+ 2026-11-04T08:48:42Z authored rs6493583 gene='LINC02490' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
74
+ 2026-11-04T08:48:45Z authored rs11636087 gene='USP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
75
+ 2026-11-04T08:48:48Z authored rs2469128 gene='LINC01169' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
76
+ 2026-11-04T08:48:50Z authored rs145437104 gene='RABEP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
77
+ 2026-11-04T08:48:53Z authored rs2008998 gene='MIR4733HG' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
78
+ 2026-11-04T08:48:55Z authored rs525767 gene='LASP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
79
+ 2026-11-04T08:48:58Z authored rs11650182 gene='SKAP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
80
+ 2026-11-04T08:49:01Z authored rs28394864 gene='ZNF652-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
81
+ 2026-11-04T08:49:03Z authored rs41292412 gene='MIR122' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
82
+ 2026-11-04T08:49:06Z authored rs6567160 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
83
+ 2026-11-04T08:49:08Z authored rs1135908 gene='PTBP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
84
+ 2026-11-04T08:49:11Z authored rs572546175 gene='LINC03078' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
85
+ 2026-11-04T08:49:14Z authored rs4810280 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
86
+ 2026-11-04T08:49:17Z authored rs4811348 gene='LINC01524' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
87
+ 2026-11-04T08:49:19Z authored rs12106385 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
88
+ 2026-11-04T08:49:22Z authored rs4822458 gene='DDT' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
data/lipidmetabolism/manifest.json CHANGED
@@ -2,11 +2,11 @@
2
  "manifest_version": "1.0",
3
  "schema_version": "1.0",
4
  "identity": {
5
- "namespace": "just-dna-seq",
6
  "name": "lipidmetabolism",
7
- "version": "1.1.0",
8
  "version_coerced_from": null,
9
- "canonical_id": "just-dna-seq/lipidmetabolism@1.1.0"
10
  },
11
  "display": {
12
  "title": "Lipid Metabolism",
@@ -21,100 +21,980 @@
21
  "method": "expert-curated",
22
  "license": null,
23
  "authority_precedence": [],
24
- "weighting": null,
25
- "owner": "just-dna-seq",
 
 
 
 
26
  "authors": [],
27
- "authorship": [],
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
28
  "created_at": null,
29
- "published_at": "2026-09-26T23:44:28Z",
30
  "stats": {
31
- "variant_count": 15,
32
- "weights_rows": 45,
33
- "study_count": 44,
34
- "gene_count": 12,
35
  "genes": [
 
 
 
 
 
 
36
  "ABCG8",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
37
  "APOB",
 
38
  "APOC3",
39
  "APOE",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
40
  "CELSR2",
 
 
 
 
41
  "CETP",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
42
  "HNF1A-AS1",
43
  "HNF4A",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
44
  "LPL",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
45
  "PCIF1",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
46
  "RAB11B",
47
- "TTC39B"
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
48
  ],
49
- "categories": [],
50
  "clinvar_count": 0,
51
  "pathogenic_count": 0,
52
  "benign_count": 0
53
  },
54
  "compilation": {
55
  "compile_success": true,
56
- "compiled_by": "marketplace-server",
57
- "compiler_version": "just-dna-compiler 0.7.0",
58
- "ensembl_reference": "just-dna-seq/ensembl_variations",
59
- "compiled_at": "2026-09-26T23:44:28Z",
60
  "warnings": [
61
- "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)."
 
 
 
 
 
62
  ],
63
- "carried": [],
64
  "warnings_summary": {
65
- "module_not_closed": 1
66
  },
67
  "dropped_rows": {},
68
  "resolution_mode": "strict",
69
  "fully_resolved": true,
70
- "resolution_subjects": 45,
71
  "expanded_keys": 0,
72
  "expanded_rows": 0,
73
- "resolution_signature": "sha256:f686b6fbe101a8bd720e3cde10acde2accc7c436cdc343082ed87e5569bdb985",
74
  "resolution_sources": [
75
  "cache"
76
  ],
77
- "vrs_alleles": 24,
78
- "vrs_alleles_identified": 24,
79
  "positional_rows": 0,
80
  "positional_rows_placed": 0
81
  },
82
- "frequency": null,
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
83
  "gene_metrics": null,
84
  "gene_validity": null,
85
  "clinical_assertions": null,
86
  "gwas_effects": null,
87
  "expression_effects": null,
88
  "literature": {
89
- "signature": "sha256:58e76f27c8d2b992796b85848329bfcccea0a1a2f094b42ee2081312138a2d8e",
90
  "sources": [
91
  "pubmed"
92
  ],
93
- "row_count": 37,
94
- "resolved_count": 37,
95
  "missing_count": 0,
96
- "open_access_count": 19,
97
  "abstract_only_count": 0,
98
  "quotes_authored": 0,
99
  "quotes_found": 0,
100
- "quotes_unchecked": 37
101
  },
102
  "clin_sig_concordance": null,
103
  "sources": {
104
- "signature": "sha256:b1c5043ccc97b5c15683fcdc1c63de32c6da8e270295619f2c4954817ed8332f",
105
  "sources": [
106
- "ensembl"
 
107
  ],
108
  "layers": [
 
109
  "resolution"
110
  ],
111
  "licenses": [
112
- "Apache-2.0"
 
113
  ],
114
  "attributions": [
115
- "Ensembl (https://www.ensembl.org)"
 
 
 
 
116
  ],
117
- "notices": [],
118
  "share_alike_layers": [],
119
  "noncommercial_layers": [],
120
  "unknown_terms_sources": [],
@@ -124,37 +1004,19 @@
124
  ],
125
  "commercial_use": true,
126
  "redistribution": true,
127
- "row_count": 1
128
  },
129
  "verification": {
130
- "signature": "sha256:37a0d67fbf16969a77af04294072b8cc74e0397fc5300250cf03d8d020be5bf4",
131
- "module_hash": "sha256:ebee2be955f078d131c91c4b93e6f3257fcd91ecb541ac1d753f2a306a4c1cb1",
132
- "producer": "just-dna-enricher 0.7.0",
133
- "produced_at": "2026-09-26T23:44:25Z",
134
- "closure": null,
 
 
 
 
135
  "checks": [
136
- {
137
- "check": "citation_existence",
138
- "subjects": 37,
139
- "findings": 0,
140
- "skipped": null,
141
- "detail": null,
142
- "source": "pubmed",
143
- "release": null,
144
- "checked_at": "2026-09-26T17:35:11Z",
145
- "producer": "just-dna-enricher 0.7.2"
146
- },
147
- {
148
- "check": "citation_identifier",
149
- "subjects": 0,
150
- "findings": 0,
151
- "skipped": "nothing_to_check",
152
- "detail": "none of 37 citation(s) carries an authored DOI or PMC id, so there was nothing to compare against PubMed's own",
153
- "source": "pubmed",
154
- "release": null,
155
- "checked_at": "2026-09-26T17:35:11Z",
156
- "producer": "just-dna-enricher 0.7.2"
157
- },
158
  {
159
  "check": "clinical_significance",
160
  "subjects": 0,
@@ -163,8 +1025,8 @@
163
  "detail": null,
164
  "source": "clinvar",
165
  "release": "clinvar_2026-06-27",
166
- "checked_at": "2026-09-26T23:44:25Z",
167
- "producer": "just-dna-enricher 0.7.0"
168
  },
169
  {
170
  "check": "dataset_currency",
@@ -174,8 +1036,8 @@
174
  "detail": "the module records no release, so it makes no claim about where its rows came from",
175
  "source": null,
176
  "release": null,
177
- "checked_at": "2026-09-26T23:44:25Z",
178
- "producer": "just-dna-enricher 0.7.0"
179
  },
180
  {
181
  "check": "evidence_status_currency",
@@ -185,8 +1047,8 @@
185
  "detail": "this module records no citation drafted from CIViC's API, so there is no recorded curation status to re-ask about",
186
  "source": "civic",
187
  "release": null,
188
- "checked_at": "2026-09-26T23:44:25Z",
189
- "producer": "just-dna-enricher 0.7.0"
190
  },
191
  {
192
  "check": "genome_build_agreement",
@@ -196,19 +1058,8 @@
196
  "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",
197
  "source": "ensembl-grch37",
198
  "release": null,
199
- "checked_at": "2026-09-26T23:44:25Z",
200
- "producer": "just-dna-enricher 0.7.0"
201
- },
202
- {
203
- "check": "provenance_quote",
204
- "subjects": 0,
205
- "findings": 0,
206
- "skipped": "nothing_to_check",
207
- "detail": "no provenance quote or regex on any citation, so none of them asked this question",
208
- "source": "europepmc",
209
- "release": null,
210
- "checked_at": "2026-09-26T17:35:11Z",
211
- "producer": "just-dna-enricher 0.7.2"
212
  },
213
  {
214
  "check": "published_refutation",
@@ -218,19 +1069,19 @@
218
  "detail": "no authored direction sits beside a published refutation (basis accepted)",
219
  "source": "civic",
220
  "release": "civic_01-Sep-2026",
221
- "checked_at": "2026-09-26T23:44:25Z",
222
- "producer": "just-dna-enricher 0.7.0"
223
  },
224
  {
225
  "check": "reference_allele",
226
- "subjects": 15,
227
  "findings": 0,
228
- "skipped": null,
229
- "detail": null,
230
  "source": "seqrepo",
231
  "release": null,
232
- "checked_at": "2026-09-26T17:35:00Z",
233
- "producer": "just-dna-enricher 0.7.2"
234
  },
235
  {
236
  "check": "rsid_coordinate_agreement",
@@ -240,62 +1091,67 @@
240
  "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",
241
  "source": "ensembl",
242
  "release": null,
243
- "checked_at": "2026-09-26T23:44:25Z",
244
- "producer": "just-dna-enricher 0.7.0"
245
  },
246
  {
247
  "check": "rsid_currency",
248
- "subjects": 15,
249
  "findings": 0,
250
- "skipped": null,
251
  "detail": null,
252
  "source": "dbsnp",
253
  "release": null,
254
- "checked_at": "2026-09-26T17:35:00Z",
255
- "producer": "just-dna-enricher 0.7.2"
256
  }
257
  ]
258
  },
259
  "inputs": [
260
  {
261
  "name": "module_spec.yaml",
262
- "sha256": "sha256:d5c66948b73b6b8d971121fa2d252be0233bc0e9caffc440466498830e31def1",
263
- "size": 431
264
  },
265
  {
266
  "name": "variants.csv",
267
- "sha256": "sha256:15fac38f9f7ee1723e41dd0ca3373021a41dd792fbeffd75bb3c55ccb8af7750",
268
- "size": 12815
269
  },
270
  {
271
  "name": "studies.csv",
272
- "sha256": "sha256:3911958009d0437cceba0b093d79554ef774175093ebbe5bcbd7a587ae1e8b8c",
273
- "size": 13704
274
  }
275
  ],
276
- "content_signature": "sha256:381445c7b9a7182b0fe8dba26f8a951ec00d16efb383fd5f1105be1ec61ffe14",
277
  "artifact": {
278
- "digest": "sha256:30814dd7460d9e90f71adb61a34696a1f938cc3315db03895c8d5b0774fc6a48",
279
  "files": [
280
  {
281
  "name": "weights.parquet",
282
- "sha256": "sha256:b145d5a437417eec6df412e7f34effd9e5b5150ab7591a1c108221ee1e3523b8",
283
- "size": 16086
284
  },
285
  {
286
  "name": "annotations.parquet",
287
- "sha256": "sha256:f9b2a208f882966e90c4a904bd3c9d2a1aafd262ac0ae27c359b889505e1ff56",
288
- "size": 6804
289
  },
290
  {
291
  "name": "studies.parquet",
292
- "sha256": "sha256:df87a39159573965d6fb7162bab9937aab86e8e8d3a191af7f7eca4ebaa97ff3",
293
- "size": 12721
 
 
 
 
 
294
  },
295
  {
296
  "name": "literature.parquet",
297
- "sha256": "sha256:0850eed088bb25cc6e1a6d745843b1ebd9684066013db1cb23f289c9e424fc51",
298
- "size": 7590
299
  },
300
  {
301
  "name": "clin_sig_concordance.parquet",
@@ -309,33 +1165,38 @@
309
  },
310
  {
311
  "name": "sources.parquet",
312
- "sha256": "sha256:8f703873167f283ad4098cc75a24caf3bf5eed4f7eba89a5d0af4bd4638aa8b9",
313
- "size": 5743
314
  }
315
  ]
316
  },
317
  "logs": [
318
  {
319
- "name": "v1_port.log",
320
- "sha256": "sha256:b3b6ae591e55242c0ef0355e0f24b42a0a468109e10d0d6289b857ff70c54d98",
321
- "size": 6848
322
  }
323
  ],
324
  "derived": [
325
  {
326
  "name": "resolution.csv",
327
- "sha256": "sha256:010b65d4c23a955b5dac564cf05150c49f7ea1425e0ec20f1013474c4da42993",
328
- "size": 2400
329
  },
330
  {
331
  "name": "verification.json",
332
- "sha256": "sha256:828ba5719439d1ce1e5b7b003bd10e6d4fbbeae5384e10b4bb128fafbc8e8fd2",
333
- "size": 4199
 
 
 
 
 
334
  },
335
  {
336
  "name": "literature.csv",
337
- "sha256": "sha256:b05786ddacd6a69b61a006a0df98c6381a461ec76f3f6bec25d0c829f2606caa",
338
- "size": 5260
339
  },
340
  {
341
  "name": "clin_sig_concordance.csv",
@@ -349,17 +1210,28 @@
349
  },
350
  {
351
  "name": "licensing.csv",
352
- "sha256": "sha256:1cecac1af2396a36e03055f442181b0333000bccd68a3683dcab7a8d0ccb0dc2",
353
- "size": 327
354
  }
355
  ],
356
- "provenance": null,
 
 
 
 
 
 
 
357
  "panel": null,
358
  "logo": {
359
  "name": "logo.png",
360
  "sha256": "sha256:69e427216214e32b56a106216bf1c9fb23f62241d7ed7817d8852338bd34d249",
361
  "size": 106316
362
  },
363
- "readme": null,
 
 
 
 
364
  "signature": null
365
  }
 
2
  "manifest_version": "1.0",
3
  "schema_version": "1.0",
4
  "identity": {
5
+ "namespace": null,
6
  "name": "lipidmetabolism",
7
+ "version": "2.0.0",
8
  "version_coerced_from": null,
9
+ "canonical_id": null
10
  },
11
  "display": {
12
  "title": "Lipid Metabolism",
 
21
  "method": "expert-curated",
22
  "license": null,
23
  "authority_precedence": [],
24
+ "weighting": {
25
+ "scale": "Mixed, by row group (see the method column). (1) Legacy rows (method expert-curated, curator just-dna-seq; Olga Borysova): curator-set values in [-3, 3], unchanged from v1.1.0. (2) Tier A GWAS rows (method 'gwas-index-beta' / 'gwas-conditional-beta'): weight = -beta x copies of the effect allele, beta in standard-deviation units of the trait per allele (LDL-C or triglycerides from Graham et al. 2021, PMID 34887591; Lp(a) from Sinnott-Armstrong et al. 2021, PMID 33462484); homozygous for the other allele = 0.0 (neutral). Typical magnitude 0.005-0.5 per row. (3) Tier B functional rows (method 'published-OR'): weight = -ln(OR) per copy of the effect allele for coronary heart disease from the cited study (het = -ln OR, hom = -2 ln OR, other = 0.0), capped to [-3, 3]. Positive = favourable (lower LDL-C / triglycerides / Lp(a) or lower CHD risk); negative = risk.",
26
+ "method": "Tier A: every conditionally independent multi-ancestry index variant (p < 5e-8, MR-MEGA) for LDL-C or triglycerides in GLGC 2021 Supplementary Table 5 (independent = yes), plus HDL-C index variants only where the same variant reaches p < 5e-8 for LDL-C or triglycerides in the GLGC multi-ancestry summary statistics (GWAS Catalog GCST90239655 / GCST90239661) or for ApoB in any GWAS Catalog association; the weight uses the LDL-C or triglyceride beta with the larger absolute value (both reported in studies.csv). Lp(a): the 21 conditionally independent genome-wide significant variants mapped to LPA in GWAS Catalog GCST90019513 (rs3798220 moved to Tier B). Tier B: PCSK9 (R46L, Y142X, C679X), APOC3 (R19X, IVS2+1G>A, IVS3+1G>T, A43T), LPA (rs10455872, rs3798220) and CETP (IVS14+1G>A) with published coronary odds/hazard ratios. Where a GWAS lead equals a legacy rsID, Olga Borysova's rows are kept and the GWAS evidence is added to studies.csv only.",
27
+ "note": "Not comparable with any other module's weights, and the three row groups are on different scales inside this module: a Tier A row is a per-allele shift of a blood lipid in SD units, a Tier B row is a log odds ratio for heart disease, and legacy rows are curator-set. A summed net weight is dominated by the ~1,000 small Tier A rows and is not a validated polygenic score; use a published PGS (e.g. the GLGC LDL-C scores in the PGS Catalog) for that purpose."
28
+ },
29
+ "owner": null,
30
  "authors": [],
31
+ "authorship": [
32
+ {
33
+ "who": "Olga Borysova",
34
+ "role": "created",
35
+ "kind": [
36
+ "human_expert"
37
+ ],
38
+ "at": null
39
+ },
40
+ {
41
+ "who": "just-dna-seq rebuild agent (AI-assisted, 2026)",
42
+ "role": "edited",
43
+ "kind": [
44
+ "ai",
45
+ "agent"
46
+ ],
47
+ "at": "2026-11-03"
48
+ }
49
+ ],
50
  "created_at": null,
51
+ "published_at": null,
52
  "stats": {
53
+ "variant_count": 1062,
54
+ "weights_rows": 3186,
55
+ "study_count": 1102,
56
+ "gene_count": 832,
57
  "genes": [
58
+ "A1CF",
59
+ "ABCA1",
60
+ "ABCA6",
61
+ "ABCA8",
62
+ "ABCB11",
63
+ "ABCB4",
64
  "ABCG8",
65
+ "ABHD15",
66
+ "ABO",
67
+ "ABRACL",
68
+ "ACAA2",
69
+ "ACACB",
70
+ "ACO1",
71
+ "ACTB",
72
+ "ACTRT2",
73
+ "ACVR1",
74
+ "ACVR1C",
75
+ "ADAM15",
76
+ "ADAMTS3",
77
+ "ADCY5",
78
+ "ADD1",
79
+ "ADGRV1",
80
+ "ADH4",
81
+ "ADPGK-AS1",
82
+ "ADRB1",
83
+ "ADTRP",
84
+ "AFF1",
85
+ "AGBL4",
86
+ "AGPAT4",
87
+ "AGPAT5",
88
+ "AHR",
89
+ "AKNA",
90
+ "AKR1C4",
91
+ "ALDH1A2",
92
+ "ALKBH5",
93
+ "ANGPTL4",
94
+ "ANGPTL8",
95
+ "ANKRD17",
96
+ "ANKRD28",
97
+ "ANO3",
98
+ "ANXA9",
99
+ "AOC1",
100
  "APOB",
101
+ "APOC1",
102
  "APOC3",
103
  "APOE",
104
+ "APOH",
105
+ "APOL3",
106
+ "APOL6",
107
+ "APPL2",
108
+ "ARCN1",
109
+ "AREG",
110
+ "ARFGEF2",
111
+ "ARHGAP10",
112
+ "ARHGEF15",
113
+ "ARHGEF19",
114
+ "ARHGEF19-AS1",
115
+ "ARID1A",
116
+ "ARID2",
117
+ "ARID5B",
118
+ "ARL15",
119
+ "ARMC2",
120
+ "ARNILA",
121
+ "ARNT",
122
+ "ARSG",
123
+ "ASAP3",
124
+ "ASGR1",
125
+ "ATF1",
126
+ "ATG4C",
127
+ "ATP2B4",
128
+ "ATP8B1",
129
+ "ATXN2",
130
+ "AURKB",
131
+ "AVPR1A",
132
+ "AXL",
133
+ "B4GALNT3",
134
+ "B4GALNT4",
135
+ "BACE2",
136
+ "BAHD1",
137
+ "BAIAP2L1",
138
+ "BANF2",
139
+ "BANP",
140
+ "BCAS1",
141
+ "BCKDK",
142
+ "BCL2",
143
+ "BCL2L11",
144
+ "BDNF",
145
+ "BDNF-AS",
146
+ "BEND3",
147
+ "BICD2",
148
+ "BICRAL",
149
+ "BISPR",
150
+ "BLMH",
151
+ "BMAL1",
152
+ "BMF",
153
+ "BMP7",
154
+ "BMPR2",
155
+ "BNC2",
156
+ "BPTF",
157
+ "BRD1",
158
+ "BTD",
159
+ "C10orf88",
160
+ "C2",
161
+ "C2orf42",
162
+ "C4orf17",
163
+ "C5orf67",
164
+ "CACNA1A",
165
+ "CACNA2D1",
166
+ "CACUL1",
167
+ "CADM1",
168
+ "CADPS",
169
+ "CAMKMT",
170
+ "CAND2",
171
+ "CARINH",
172
+ "CARMIL1",
173
+ "CASC15",
174
+ "CASC17",
175
+ "CATSPER2P1",
176
+ "CAVIN1",
177
+ "CCDC106",
178
+ "CCDC170",
179
+ "CCDC200",
180
+ "CCDC63",
181
+ "CCDC77",
182
+ "CCDC92",
183
+ "CCND1",
184
+ "CCND2",
185
+ "CD300LG",
186
+ "CDCA2",
187
+ "CDKAL1",
188
+ "CDKN1A",
189
+ "CDKN2B-AS1",
190
+ "CEBPG",
191
  "CELSR2",
192
+ "CEP164",
193
+ "CEP68",
194
+ "CERT1",
195
+ "CES1",
196
  "CETP",
197
+ "CFAP251",
198
+ "CFL1",
199
+ "CFL2",
200
+ "CFTR",
201
+ "CHEK2",
202
+ "CHLSN",
203
+ "CIBAR2",
204
+ "CLDN23",
205
+ "CLEC14A",
206
+ "CLLU1-AS1",
207
+ "CMIP",
208
+ "CMTM6",
209
+ "CNIH4",
210
+ "CNKSR1",
211
+ "COBLL1",
212
+ "COG2",
213
+ "COG5",
214
+ "COL18A1",
215
+ "COL25A1",
216
+ "COL27A1",
217
+ "COL4A2",
218
+ "COL6A1",
219
+ "COLEC11",
220
+ "COLEC12",
221
+ "COMT",
222
+ "CORO1C",
223
+ "COX16",
224
+ "COX4I2",
225
+ "CPEB2",
226
+ "CPEB4",
227
+ "CPT1A",
228
+ "CREB3L2",
229
+ "CREB3L3",
230
+ "CRPPA",
231
+ "CRYZL2P-SEC16B",
232
+ "CSF1",
233
+ "CSMD1",
234
+ "CSNK1G3",
235
+ "CSNK2A1",
236
+ "CTCFL",
237
+ "CUX2",
238
+ "CXCL1",
239
+ "CYB5B",
240
+ "CYP26A1",
241
+ "CYP26B1",
242
+ "CYP2A6",
243
+ "CYP4F12",
244
+ "CYP7A1",
245
+ "CYRIA",
246
+ "CYSTM1",
247
+ "CYTL1",
248
+ "DAB1",
249
+ "DCAF12",
250
+ "DCP2",
251
+ "DCT",
252
+ "DDT",
253
+ "DDX19A-DT",
254
+ "DDX46",
255
+ "DDX56",
256
+ "DENND4C",
257
+ "DENND6B",
258
+ "DGKQ",
259
+ "DHODH",
260
+ "DHPS",
261
+ "DIP2B",
262
+ "DIXDC1",
263
+ "DLC1",
264
+ "DLEU1",
265
+ "DLG4",
266
+ "DMGDH",
267
+ "DMRT2",
268
+ "DMTN",
269
+ "DNAH1",
270
+ "DNAH11",
271
+ "DNAH12",
272
+ "DNAJC13",
273
+ "DNAJC16",
274
+ "DNAJC17",
275
+ "DNM3",
276
+ "DNMT1",
277
+ "DOCK6",
278
+ "DOCK7",
279
+ "DPYD",
280
+ "DR1",
281
+ "DRAIC",
282
+ "DSTYK",
283
+ "E2F3",
284
+ "EBF1",
285
+ "EEPD1",
286
+ "EFNA1",
287
+ "EGF",
288
+ "EHBP1",
289
+ "EIF4E",
290
+ "ELAVL1",
291
+ "ELF1",
292
+ "EMILIN2",
293
+ "EML3",
294
+ "ENTPD6",
295
+ "EPM2AIP1",
296
+ "ERGIC2",
297
+ "ERGIC3",
298
+ "ERICH2",
299
+ "ERLIN1",
300
+ "ETNK1-DT",
301
+ "EVI5",
302
+ "EVI5L",
303
+ "EYA1",
304
+ "EYA2",
305
+ "EYA3",
306
+ "FABP4",
307
+ "FADS1",
308
+ "FAF1",
309
+ "FAM117B",
310
+ "FAM13A",
311
+ "FAM228A",
312
+ "FARP2",
313
+ "FASN",
314
+ "FBLN1",
315
+ "FBRSL1",
316
+ "FBXL17",
317
+ "FBXW10",
318
+ "FCGR2C",
319
+ "FCGRT",
320
+ "FENDRR",
321
+ "FER1L4",
322
+ "FFAR4",
323
+ "FGB",
324
+ "FGF21",
325
+ "FGFR1",
326
+ "FGFR4",
327
+ "FIZ1",
328
+ "FLACC1",
329
+ "FLT1",
330
+ "FN1",
331
+ "FNBP1L",
332
+ "FNIP1",
333
+ "FOXA3",
334
+ "FOXN3",
335
+ "FRK",
336
+ "FRY",
337
+ "FST",
338
+ "FTO",
339
+ "FUT2",
340
+ "FUT3",
341
+ "FZD2",
342
+ "GAB2",
343
+ "GABBR1",
344
+ "GADD45G",
345
+ "GALK1",
346
+ "GALNT2",
347
+ "GALNT4",
348
+ "GALNT6",
349
+ "GAREM1",
350
+ "GAS6",
351
+ "GATA4",
352
+ "GATA6",
353
+ "GBF1",
354
+ "GC",
355
+ "GCC2",
356
+ "GCK",
357
+ "GCKR",
358
+ "GEN1",
359
+ "GIGYF1",
360
+ "GIMAP7",
361
+ "GLDC",
362
+ "GLP2R",
363
+ "GLTPD2",
364
+ "GPAM",
365
+ "GPCPD1",
366
+ "GPIHBP1",
367
+ "GPR180",
368
+ "GRIK2",
369
+ "GRIK4",
370
+ "GRM4",
371
+ "GSTA12P",
372
+ "GSTA2",
373
+ "GSTM5",
374
+ "HAVCR1",
375
+ "HAX1",
376
+ "HBP1",
377
+ "HBS1L",
378
+ "HCAR1",
379
+ "HCG20",
380
+ "HDGFL2",
381
+ "HDHD5",
382
+ "HEATR5A",
383
+ "HELZ",
384
+ "HERC1",
385
+ "HFM1",
386
+ "HGFAC",
387
+ "HIC1",
388
+ "HK1",
389
+ "HLA-A",
390
+ "HLA-B",
391
+ "HLA-DQA1",
392
+ "HLA-DQB1",
393
+ "HLA-DRB5",
394
+ "HLMR1",
395
+ "HMGN1",
396
+ "HMGXB4",
397
+ "HNF1A",
398
  "HNF1A-AS1",
399
  "HNF4A",
400
+ "HORMAD2",
401
+ "HOXB3",
402
+ "HPN",
403
+ "HPR",
404
+ "HSPA4",
405
+ "HTT",
406
+ "IDE",
407
+ "IFT80",
408
+ "IGF1",
409
+ "IGF2R",
410
+ "IKZF3",
411
+ "IL10RA",
412
+ "IL1RN",
413
+ "IL38",
414
+ "ILRUN",
415
+ "INHBA",
416
+ "INKILN",
417
+ "INPP4B",
418
+ "INPP5A",
419
+ "INSIG1-DT",
420
+ "INSIG2",
421
+ "INSR",
422
+ "IRAG1",
423
+ "IRS1",
424
+ "ITCH",
425
+ "ITGA1",
426
+ "ITGB6",
427
+ "ITIH3",
428
+ "JAZF1",
429
+ "JMJD1C",
430
+ "JMY",
431
+ "KAT5",
432
+ "KBTBD8",
433
+ "KCNJ2",
434
+ "KCNK17",
435
+ "KCNK3",
436
+ "KCNU1",
437
+ "KDM4B",
438
+ "KDSR",
439
+ "KIF13B",
440
+ "KLF12",
441
+ "KLF13",
442
+ "KLF14",
443
+ "KLF15",
444
+ "KLF2-DT",
445
+ "KLHDC7A",
446
+ "KLHL31",
447
+ "KMT2E",
448
+ "KMT5A",
449
+ "KPNB1",
450
+ "KRAS",
451
+ "KRT78",
452
+ "L3MBTL3",
453
+ "LAMB1",
454
+ "LAMC1",
455
+ "LASP1",
456
+ "LCORL",
457
+ "LCTL",
458
+ "LDLR",
459
+ "LEPR",
460
+ "LGR6",
461
+ "LHCGR",
462
+ "LILRA5",
463
+ "LINC00243",
464
+ "LINC00299",
465
+ "LINC00466",
466
+ "LINC00511",
467
+ "LINC00824",
468
+ "LINC00880",
469
+ "LINC01091",
470
+ "LINC01122",
471
+ "LINC01153",
472
+ "LINC01169",
473
+ "LINC01221",
474
+ "LINC01235",
475
+ "LINC01301",
476
+ "LINC01344",
477
+ "LINC01524",
478
+ "LINC01605",
479
+ "LINC01808",
480
+ "LINC01830",
481
+ "LINC02068",
482
+ "LINC02490",
483
+ "LINC02603",
484
+ "LINC02694",
485
+ "LINC02941",
486
+ "LINC02950",
487
+ "LINC03078",
488
+ "LINGO2",
489
+ "LIPA",
490
+ "LIPG",
491
+ "LITAF",
492
+ "LMAN1L",
493
+ "LMF1",
494
+ "LNROP",
495
+ "LNX1",
496
+ "LPA",
497
+ "LPAR1",
498
+ "LPAR5",
499
  "LPL",
500
+ "LRBA",
501
+ "LRMDA",
502
+ "LRRK2-DT",
503
+ "LYPLAL1-AS1",
504
+ "LYZ",
505
+ "LZTS1",
506
+ "MACO1",
507
+ "MAF",
508
+ "MAFB",
509
+ "MAFF",
510
+ "MAFTRR",
511
+ "MAGOH3P",
512
+ "MAP1A",
513
+ "MAP3K4",
514
+ "MAP3K6",
515
+ "MAPK10",
516
+ "MAPK8IP1",
517
+ "MARCHF8",
518
+ "MARCO",
519
+ "MARK2",
520
+ "MBD3L1",
521
+ "MBL2",
522
+ "MBTD1",
523
+ "MC4R",
524
+ "MCC",
525
+ "MCM6",
526
+ "MEGF9",
527
+ "MEIS1",
528
+ "MET",
529
+ "MGA",
530
+ "MGAT5",
531
+ "MGRN1",
532
+ "MICAL3",
533
+ "MIDEAS",
534
+ "MIMS1",
535
+ "MIMT1",
536
+ "MIR122",
537
+ "MIR4733HG",
538
+ "MISO1",
539
+ "MITF",
540
+ "MLXIPL",
541
+ "MLYCD",
542
+ "MMAB",
543
+ "MON2",
544
+ "MPPED2",
545
+ "MSI2",
546
+ "MSRA-DT",
547
+ "MTARC1",
548
+ "MTSS1",
549
+ "MTTP",
550
+ "MTUS1",
551
+ "MUC2",
552
+ "MYBL2",
553
+ "MYCT1",
554
+ "MYLIP",
555
+ "NAT2",
556
+ "NCDN",
557
+ "NDC1",
558
+ "NDRG2",
559
+ "NECTIN1-DT",
560
+ "NEDD4L",
561
+ "NEGR1",
562
+ "NEO1",
563
+ "NFAT5",
564
+ "NFE2L3",
565
+ "NFIA",
566
+ "NFIB",
567
+ "NIBAN1",
568
+ "NINL",
569
+ "NIPSNAP1",
570
+ "NKX3-1",
571
+ "NOSTRIN",
572
+ "NPC1",
573
+ "NR1H3",
574
+ "NR1H4",
575
+ "NR1I2",
576
+ "NR5A2",
577
+ "NRDC",
578
+ "NRL",
579
+ "NRP1",
580
+ "NRXN3",
581
+ "NSD1",
582
+ "NTSR1",
583
+ "NUCKS1",
584
+ "NUDT3",
585
+ "NXPH1",
586
+ "NYNRIN",
587
+ "OIT3",
588
+ "OPRL1",
589
+ "OR51A5P",
590
+ "OR8J1",
591
+ "OTUD7B",
592
+ "P2RX3",
593
+ "PABPC4",
594
+ "PACRG",
595
+ "PALM3",
596
+ "PARP6",
597
+ "PATL2",
598
+ "PCBP1-AS1",
599
+ "PCCB",
600
  "PCIF1",
601
+ "PCM1",
602
+ "PCNPP2",
603
+ "PCSK5",
604
+ "PCSK6",
605
+ "PCSK9",
606
+ "PDE3A",
607
+ "PDE3B",
608
+ "PDE4C",
609
+ "PDGFC",
610
+ "PDGFD",
611
+ "PDXDC1",
612
+ "PEMT",
613
+ "PEPD",
614
+ "PEX6",
615
+ "PGS1",
616
+ "PHC1",
617
+ "PHF11",
618
+ "PID1",
619
+ "PIK3R1",
620
+ "PINX1",
621
+ "PKD2L1",
622
+ "PKN3",
623
+ "PLA2G12A",
624
+ "PLA2G12B",
625
+ "PLA2G3",
626
+ "PLA2G6",
627
+ "PLCE1",
628
+ "PLD1",
629
+ "PLEC",
630
+ "PLEKHG1",
631
+ "PLIN1",
632
+ "PLXND1",
633
+ "PNKD",
634
+ "PNLIPRP2",
635
+ "PNPLA3",
636
+ "POC5",
637
+ "POLR1HASP",
638
+ "POR",
639
+ "PPARG",
640
+ "PPIF",
641
+ "PPM1A",
642
+ "PPP1R13B",
643
+ "PPP1R3B-DT",
644
+ "PPP2R2A",
645
+ "PPP4R1",
646
+ "PPP5C",
647
+ "PPP6R2",
648
+ "PRDM1",
649
+ "PRKAG1",
650
+ "PRKAG3",
651
+ "PRKAR2B",
652
+ "PRKCE",
653
+ "PRKN",
654
+ "PRMT6",
655
+ "PROX2",
656
+ "PRSS38",
657
+ "PSG3",
658
+ "PSKH1",
659
+ "PSMD12",
660
+ "PSMG1",
661
+ "PTBP1",
662
+ "PTEN",
663
+ "PTGER3",
664
+ "PTPN3",
665
+ "PTPRJ",
666
+ "PXK",
667
+ "QARS1",
668
+ "QKI",
669
+ "QRICH2",
670
+ "R3HDM2",
671
+ "RAB10",
672
  "RAB11B",
673
+ "RAB1A",
674
+ "RAB21",
675
+ "RABEP1",
676
+ "RAPGEF3",
677
+ "RBBP5",
678
+ "RBFADN",
679
+ "RBMS2",
680
+ "RCN3",
681
+ "RER1",
682
+ "RETREG3",
683
+ "RFLNA",
684
+ "RFX4",
685
+ "RGS17",
686
+ "RIC8B",
687
+ "RIGI",
688
+ "RILPL2",
689
+ "RMI1",
690
+ "RN7SL140P",
691
+ "RNA5SP69",
692
+ "RNF111",
693
+ "RNF150",
694
+ "RNF157",
695
+ "RNF168",
696
+ "RNF212B",
697
+ "RNU6-200P",
698
+ "ROR1",
699
+ "RORA",
700
+ "RP1",
701
+ "RPH3A",
702
+ "RPL31",
703
+ "RPL31P12",
704
+ "RPSAP52",
705
+ "RRAGC",
706
+ "RRBP1",
707
+ "RREB1",
708
+ "RSPO3",
709
+ "RTRAF",
710
+ "RXRA",
711
+ "SACS",
712
+ "SARM1",
713
+ "SBNO1",
714
+ "SCAF4",
715
+ "SCARB1",
716
+ "SCCPDH",
717
+ "SEC16A",
718
+ "SECISBP2L",
719
+ "SERPINA1",
720
+ "SERTAD2",
721
+ "SESN1",
722
+ "SETBP1",
723
+ "SETD5",
724
+ "SF3B4",
725
+ "SH2D4A",
726
+ "SH3YL1",
727
+ "SHROOM3",
728
+ "SIM1",
729
+ "SIPA1",
730
+ "SIPA1L3",
731
+ "SKAP1",
732
+ "SKI",
733
+ "SLC12A2",
734
+ "SLC12A2-DT",
735
+ "SLC12A4",
736
+ "SLC16A9",
737
+ "SLC17A2",
738
+ "SLC25A19",
739
+ "SLC25A29",
740
+ "SLC25A30",
741
+ "SLC25A31",
742
+ "SLC26A2",
743
+ "SLC2A2",
744
+ "SLC33A1",
745
+ "SLC39A8",
746
+ "SLC67A1",
747
+ "SLC9B1",
748
+ "SLCO1B1",
749
+ "SMAD3",
750
+ "SMAD7",
751
+ "SMIM14-DT",
752
+ "SMIM20",
753
+ "SNX10",
754
+ "SNX11",
755
+ "SNX13",
756
+ "SNX14",
757
+ "SNX27",
758
+ "SNX8",
759
+ "SORCS2",
760
+ "SORL1",
761
+ "SOS2",
762
+ "SP1",
763
+ "SPATA20",
764
+ "SPDYE7P",
765
+ "SPON1",
766
+ "SPRY4",
767
+ "SPRY4-AS1",
768
+ "SPTA1",
769
+ "SPTLC3",
770
+ "SPTY2D1",
771
+ "SSBP3",
772
+ "SSH1",
773
+ "SSPN",
774
+ "SSPN-AS1",
775
+ "ST13",
776
+ "ST3GAL4",
777
+ "STAB1",
778
+ "STAT5B",
779
+ "STMN1",
780
+ "STX1B",
781
+ "STXBP3",
782
+ "SULT2A1",
783
+ "SUN2",
784
+ "SYNE2",
785
+ "SYTL1",
786
+ "TAOK2",
787
+ "TBC1D13",
788
+ "TBC1D3JP",
789
+ "TCEA3",
790
+ "TCF12",
791
+ "TESK2",
792
+ "TET2",
793
+ "TF",
794
+ "TFG",
795
+ "THADA",
796
+ "THNSL2",
797
+ "THOC1-DT",
798
+ "THOP1",
799
+ "THRB",
800
+ "TM4SF5",
801
+ "TM6SF2",
802
+ "TMEM106B",
803
+ "TMEM147",
804
+ "TMEM175",
805
+ "TMEM59L",
806
+ "TMEM70",
807
+ "TMPRSS11E",
808
+ "TMPRSS5",
809
+ "TMPRSS6",
810
+ "TNFAIP8",
811
+ "TNKS",
812
+ "TNKS2",
813
+ "TNPO1",
814
+ "TP53",
815
+ "TPM1",
816
+ "TPRA1",
817
+ "TRAM2-AS1",
818
+ "TRANK1",
819
+ "TRIB1AL",
820
+ "TRIM2",
821
+ "TRIM31",
822
+ "TRIM5",
823
+ "TRMU",
824
+ "TRPS1",
825
+ "TSC22D2",
826
+ "TSHZ2",
827
+ "TTC38",
828
+ "TTC39B",
829
+ "TUBD1",
830
+ "TULP1",
831
+ "TXNDC11",
832
+ "UBASH3B",
833
+ "UBE2E2",
834
+ "UBE2L3",
835
+ "UBE3B",
836
+ "UGT1A1",
837
+ "UGT1A11P",
838
+ "UGT2B10",
839
+ "UGT2B15",
840
+ "UGT2B25P",
841
+ "UNC5CL",
842
+ "USP3",
843
+ "USP39",
844
+ "USP53",
845
+ "VCAN",
846
+ "VEGFA",
847
+ "VEGFB",
848
+ "VGLL3",
849
+ "VIM",
850
+ "VLDLR",
851
+ "VN1R1",
852
+ "VN1R11P",
853
+ "VPS53",
854
+ "WDR20",
855
+ "WDR72",
856
+ "WDR81",
857
+ "XPO1",
858
+ "XRN1",
859
+ "YLPM1",
860
+ "ZBTB10",
861
+ "ZBTB41",
862
+ "ZC3H11B",
863
+ "ZC3H4",
864
+ "ZCCHC8",
865
+ "ZDHHC18",
866
+ "ZDHHC24",
867
+ "ZFHX3",
868
+ "ZFP28-DT",
869
+ "ZFPM1",
870
+ "ZFPM2",
871
+ "ZHX3",
872
+ "ZNF148",
873
+ "ZNF160",
874
+ "ZNF283",
875
+ "ZNF285",
876
+ "ZNF329",
877
+ "ZNF341",
878
+ "ZNF385B",
879
+ "ZNF404",
880
+ "ZNF423",
881
+ "ZNF487",
882
+ "ZNF652-AS1",
883
+ "ZNF746",
884
+ "ZNF76",
885
+ "ZNF800",
886
+ "ZNF846",
887
+ "ZPR1",
888
+ "ZRANB3",
889
+ "ZSCAN23"
890
+ ],
891
+ "categories": [
892
+ "Functional / high-impact variant (Tier B)",
893
+ "LDL cholesterol (GWAS index variant)",
894
+ "Lipoprotein(a) (GWAS independent variant)",
895
+ "Triglycerides (GWAS index variant)"
896
  ],
 
897
  "clinvar_count": 0,
898
  "pathogenic_count": 0,
899
  "benign_count": 0
900
  },
901
  "compilation": {
902
  "compile_success": true,
903
+ "compiled_by": null,
904
+ "compiler_version": "just-dna-compiler 0.7.2",
905
+ "ensembl_reference": null,
906
+ "compiled_at": "2026-11-04T09:01:31Z",
907
  "warnings": [
908
+ "VRS allele identity covers 1745/1750 allele(s) in resolution.csv (100%) — 5 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
909
+ " 5 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)"
910
+ ],
911
+ "carried": [
912
+ "VRS allele identity covers 1745/1750 allele(s) in resolution.csv (100%) — 5 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
913
+ " 5 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)"
914
  ],
 
915
  "warnings_summary": {
916
+ "vrs_coverage_incomplete": 2
917
  },
918
  "dropped_rows": {},
919
  "resolution_mode": "strict",
920
  "fully_resolved": true,
921
+ "resolution_subjects": 3186,
922
  "expanded_keys": 0,
923
  "expanded_rows": 0,
924
+ "resolution_signature": "sha256:0b11116334606c147116e6b644013dd9e317df5fa24534e987b1b368e58de8d2",
925
  "resolution_sources": [
926
  "cache"
927
  ],
928
+ "vrs_alleles": 1750,
929
+ "vrs_alleles_identified": 1745,
930
  "positional_rows": 0,
931
  "positional_rows_placed": 0
932
  },
933
+ "frequency": {
934
+ "signature": "sha256:b5eced295ef864a9f41ffcb5a033bdb0995ca6ed704128c7fab74d0e74330105",
935
+ "sources": [
936
+ "gnomad"
937
+ ],
938
+ "datasets": [
939
+ "gnomad_v4.1_joint"
940
+ ],
941
+ "populations": [
942
+ "global",
943
+ "afr",
944
+ "ami",
945
+ "amr",
946
+ "asj",
947
+ "eas",
948
+ "fin",
949
+ "mid",
950
+ "nfe",
951
+ "remaining",
952
+ "sas"
953
+ ],
954
+ "row_count": 15000,
955
+ "variant_count": 1750
956
+ },
957
  "gene_metrics": null,
958
  "gene_validity": null,
959
  "clinical_assertions": null,
960
  "gwas_effects": null,
961
  "expression_effects": null,
962
  "literature": {
963
+ "signature": "sha256:4b87a6a95b0224dd8b6b7768c06f7249e98edffc7ae14bab9e784d61710f66cb",
964
  "sources": [
965
  "pubmed"
966
  ],
967
+ "row_count": 45,
968
+ "resolved_count": 45,
969
  "missing_count": 0,
970
+ "open_access_count": 22,
971
  "abstract_only_count": 0,
972
  "quotes_authored": 0,
973
  "quotes_found": 0,
974
+ "quotes_unchecked": 45
975
  },
976
  "clin_sig_concordance": null,
977
  "sources": {
978
+ "signature": "sha256:9a8b8fd5943172acf8898b6828e361cc677fca41edd1371fa301624d18f76b7b",
979
  "sources": [
980
+ "ensembl",
981
+ "gnomad"
982
  ],
983
  "layers": [
984
+ "frequency",
985
  "resolution"
986
  ],
987
  "licenses": [
988
+ "Apache-2.0",
989
+ "CC0-1.0"
990
  ],
991
  "attributions": [
992
+ "Ensembl (https://www.ensembl.org)",
993
+ "gnomAD, Broad Institute (https://gnomad.broadinstitute.org)"
994
+ ],
995
+ "notices": [
996
+ "CC0 public-domain dedication for the primary exome/genome data; attribution requested but not required. Users agree not to attempt to reidentify participants. Some layered annotations carry their own terms (SpliceAI is CC BY-NC 4.0, academic/non-commercial)."
997
  ],
 
998
  "share_alike_layers": [],
999
  "noncommercial_layers": [],
1000
  "unknown_terms_sources": [],
 
1004
  ],
1005
  "commercial_use": true,
1006
  "redistribution": true,
1007
+ "row_count": 2
1008
  },
1009
  "verification": {
1010
+ "signature": "sha256:5ea902a260ab64a4c4f7af896d4a1bf8b5c930ae3af30981312dc6e579d34917",
1011
+ "module_hash": "sha256:6e30a1268026adc354342eacb9f1d4a95b0ffbc37a22be5fa18a2c0a4d2eaf0f",
1012
+ "producer": "just-dna-enricher 0.7.3",
1013
+ "produced_at": "2026-11-04T09:01:17Z",
1014
+ "closure": {
1015
+ "closed_at": "2026-11-04T09:01:26Z",
1016
+ "closed_by": "A. Kulaga (maintainer); AI agent (just-module-creator), 2026 rebuild",
1017
+ "signature": null
1018
+ },
1019
  "checks": [
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1020
  {
1021
  "check": "clinical_significance",
1022
  "subjects": 0,
 
1025
  "detail": null,
1026
  "source": "clinvar",
1027
  "release": "clinvar_2026-06-27",
1028
+ "checked_at": "2026-11-04T09:01:17Z",
1029
+ "producer": "just-dna-enricher 0.7.3"
1030
  },
1031
  {
1032
  "check": "dataset_currency",
 
1036
  "detail": "the module records no release, so it makes no claim about where its rows came from",
1037
  "source": null,
1038
  "release": null,
1039
+ "checked_at": "2026-11-04T09:01:17Z",
1040
+ "producer": "just-dna-enricher 0.7.3"
1041
  },
1042
  {
1043
  "check": "evidence_status_currency",
 
1047
  "detail": "this module records no citation drafted from CIViC's API, so there is no recorded curation status to re-ask about",
1048
  "source": "civic",
1049
  "release": null,
1050
+ "checked_at": "2026-11-04T09:01:17Z",
1051
+ "producer": "just-dna-enricher 0.7.3"
1052
  },
1053
  {
1054
  "check": "genome_build_agreement",
 
1058
  "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",
1059
  "source": "ensembl-grch37",
1060
  "release": null,
1061
+ "checked_at": "2026-11-04T09:01:17Z",
1062
+ "producer": "just-dna-enricher 0.7.3"
 
 
 
 
 
 
 
 
 
 
 
1063
  },
1064
  {
1065
  "check": "published_refutation",
 
1069
  "detail": "no authored direction sits beside a published refutation (basis accepted)",
1070
  "source": "civic",
1071
  "release": "civic_01-Sep-2026",
1072
+ "checked_at": "2026-11-04T09:01:17Z",
1073
+ "producer": "just-dna-enricher 0.7.3"
1074
  },
1075
  {
1076
  "check": "reference_allele",
1077
+ "subjects": 0,
1078
  "findings": 0,
1079
+ "skipped": "offline",
1080
+ "detail": "no sequence access this run, so no authored ref was compared",
1081
  "source": "seqrepo",
1082
  "release": null,
1083
+ "checked_at": "2026-11-04T09:01:17Z",
1084
+ "producer": "just-dna-enricher 0.7.3"
1085
  },
1086
  {
1087
  "check": "rsid_coordinate_agreement",
 
1091
  "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",
1092
  "source": "ensembl",
1093
  "release": null,
1094
+ "checked_at": "2026-11-04T09:01:17Z",
1095
+ "producer": "just-dna-enricher 0.7.3"
1096
  },
1097
  {
1098
  "check": "rsid_currency",
1099
+ "subjects": 0,
1100
  "findings": 0,
1101
+ "skipped": "not_requested",
1102
  "detail": null,
1103
  "source": "dbsnp",
1104
  "release": null,
1105
+ "checked_at": "2026-11-04T09:01:17Z",
1106
+ "producer": "just-dna-enricher 0.7.3"
1107
  }
1108
  ]
1109
  },
1110
  "inputs": [
1111
  {
1112
  "name": "module_spec.yaml",
1113
+ "sha256": "sha256:3306d604ad469ffbaefebbca7ced486c1d5c09d9889284e7da3b786100796764",
1114
+ "size": 3015
1115
  },
1116
  {
1117
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