HGMD/gnomAD missense pathogenicity, ESM1b versus EVE on variants scored by both (Brandes et al. 2023 Fig. 2b, Results text)
Global ROC-AUC of ESM1b and EVE on the HGMD/gnomAD variants scored by both, as quoted in the Results.
No reviewed evaluations are linked here in this release. See the sources below.
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Protocol coverage CSV (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)
Coverage is derived from release 2026-10-22-1b7cf027e4f6. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
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Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
1 source record and release history
- Genome-wide prediction of disease variant effects with a deep protein language model (Brandes et al., Nature Genetics 2023) · Original source · Version of record, Nature Genetics 55, 1512-1522 (published 2023-08-10)
Technical metadata and extraction receipts
Stable ID: gfm-guides-20261014-esm1b-protocol-hgmd-esm1b-eve-shared
- areas
- dna-genomes; protein-function
- contexts
- clinical_research
- protocol
- Global ROC-AUC over the variants with both ESM1b and EVE scores.
- version
- Results text (Fig. 2b)
- metric
- auroc
- metric direction
- higher
- unit
- unitless
- denominator
- 30497
- limitations
- Benchmark built by the ESM1b workflow's authors (author-reported for ESM1b).; Supplementary Table 2's EVE head-to-head row gives slightly different values and counts (see the article source's limitations).
- source locator
- Results 'ESM1b outperforms other VEP methods over clinical and experimental benchmarks' paragraph 2; Fig. 2b legend
Related records
- part of: Brandes et al. 2023 clinical missense pathogenicity benchmarks (ClinVar and HGMD/gnomAD)
- uses data: HGMD disease-causing vs gnomAD common missense variants, primary isoforms (Brandes et al. 2023)
- assessment: ESM1b on HGMD/gnomAD missense, ESM1b versus EVE shared variants (Brandes et al. 2023 Results)
- assessment: EVE on HGMD/gnomAD missense, ESM1b versus EVE shared variants (Brandes et al. 2023 Results)