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Paper: full-scale R2 head-to-head, warm-cache R3, submitter attribution - #130

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Paper: full-scale R2 head-to-head, warm-cache R3, submitter attribution#130
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paper-benchmarks-2026-08-19

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@davmlaw davmlaw commented Aug 21, 2026

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🤖 Written by Claude

Follow-up analyses after #128 (which handled items 2, 3 and the review feedback). Three deferred items, all measured on real data:

Item 1 — warm-cache R3 (retires "cache conditions differed")

A full-scale local-JSON pass over all 4,423,358 ClinVar (g.HGVS, c.HGVS) pairs, warmed then timed: 640 HGVS/s hot vs 632 cold (~1%). Full-scale local-JSON throughput is not sequence-cache-limited, so the small local-vs-REST difference was never a cache artifact. R3 rewritten; benchmark_fullscale.csv added.

Item 4 — full-scale cdot-vs-UTA head-to-head (removes the sampling caveat)

The full submitted corpus (3,198,528 pairs), no sampling:

cdot UTA
matched VCF coordinate 99.0% 81.9%
resolves alone 548,524 (17.2 pts) 1,226

Broken down by submission era (the fair view, from full data): 2008–2015 cdot 97.3% vs UTA 76.2%; 2021–26 99.0% vs 81.0%. R2 rewritten to full-scale + per-era, dropping the two-sample framing and the Table S4 "gated to a sample by UTA throughput" caveat. Residual taxonomy recomputed on the full 32,462 residual (version-absent dominated).

Item 5 — why is version substitution needed at all? (new result)

Attributing each absent-from-cdot citation to its submitter: of 2,894 labs only 85 ever cite a version cdot lacks, a single large lab accounts for 94.9%, and 83.2% of absent versions are cited by one submitter — the self-alignment signature. So substitution, not deeper ingest, resolves them. Short R2 paragraph + submitter_attribution.csv (aggregate only; the named per-submitter table is not committed).

Facts refreshed: clinvar_submitted.csv, clinvar_submitted_residual.csv, new benchmark_fullscale.csv, submitter_attribution.csv. New script paper/scripts/submitter_attribution.py. Paper renders clean.

🤖 Generated with Claude Code

https://claude.ai/code/session_015662nbf1iezxdL9EMcckU7

…on - #112

R2: replace the sampled cdot-vs-UTA comparison with the full-scale head-to-head over all
3,198,528 submitted pairs (cdot 99.0% vs UTA 81.9%; 548,524 resolve through cdot alone,
1,226 through UTA alone), broken down by submission era (2008-2015 cdot 97.3% vs UTA
76.2%). Drops the two-sample framing and the "gated to a sample by UTA throughput"
caveat (Table S4). Residual taxonomy recomputed on the full 32,462 residual.

R3: replace the "cache conditions differed" hand-wave with a hot-cache measurement: a
full-scale local-JSON pass warmed then timed runs at 640 HGVS/s, within 1% of the cold
pass (632), so throughput is not sequence-cache-limited (benchmark_fullscale.csv).

New: submitter attribution of the versions cdot lacks (submitter_attribution.py) - 94.9%
of absent-version citations come from a single large lab and 83.2% of absent versions are
cited by one submitter, the self-alignment signature, so substitution not deeper ingest
resolves them.
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