Source

Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC)

PMC11393694 (Am J Hum Genet 2024;111(9):2031) · Peer-reviewed

DOI: 10.1016/j.ajhg.2024.07.018 Original source

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2 evidence claims
1 use case

Claims

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Relevance of vep-uc-20261014-protocol-bergquist2025-point-intervals to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by PP3/BP4 score intervals on the points scale (Bergquist et al. 2025 Table 1) (vep-uc-20261014-source-bergquist2025: Table 1 and caption; Materials and Methods; Results; vep-uc-20261014-source-tejura2024: Summary)
Relevance of vep-uc-20261014-protocol-pejaver2022-intervals to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) (vep-uc-20261014-source-pejaver2022: Table 2 and footnote; Methods; author list; references 13, 18, 19, 23, 25; vep-uc-20261014-source-tejura2024: Summary; vep-uc-20261014-source-stenton2024: Table 1)

Models, benchmarks and other records

Use cases (1)

Use calibrated computational evidence for missense variants (PP3/BP4)

Evidence

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27 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statement	Original source and location	Review and provenance
attributes.artifact_sha256 e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.artifact_sha256` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Doi 10.1016/j.ajhg.2024.07.018 Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.doi` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Hash scope artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f. Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.hash_scope` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Licence Not stated on the retrieved page Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.licence` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Limitations 1 values Cited for its summary finding only; its tables are not extracted. Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.limitations` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Media type text/html Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.media_type` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Publication status peer_reviewed Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.publication_status` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Retrieved at 2026-10-14T14:49:15Z Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.retrieved_at` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
attributes.review.artifact_sha256 e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.review.artifact_sha256` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
Review: method note Re-downloaded on 2026-10-14 and matched the pinned SHA-256 (PMC pages after blanking the ncbi_phid and csrfmiddlewaretoken values, checked by an independent normaliser). Source metadata	Tejura et al. 2024, Am J Hum Genet 111:2031 (PMC) Original source ↗ No field-specific location recorded Version: PMC11393694 (Am J Hum Genet 2024;111(9):2031) Retrieved: 2026-10-14T14:49:15Z	catalogued No individual claim review recorded Audit details Field: `attributes.review.method_note` Source artifact SHA-256: `e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf` Hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.

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Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

Gene-by-gene analysis of REVEL and BayesDel ClinGen SVI score intervals in 3,668 disease-relevant genes, showing heterogeneous performance hidden by genome-wide calibration.

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Technical metadata and extraction receipts

Stable ID: vep-uc-20261014-source-tejura2024

areas: dna-genomes
contexts: clinical_research
url: https://pmc.ncbi.nlm.nih.gov/articles/PMC11393694/
version: PMC11393694 (Am J Hum Genet 2024;111(9):2031)
retrieved at: 2026-10-14T14:49:15Z
artifact sha256: e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf
publication status: peer_reviewed
licence: Not stated on the retrieved page
source locator: Summary
doi: 10.1016/j.ajhg.2024.07.018
media type: text/html
hash scope: artifact_sha256 is the SHA-256 of the retrieved page with the two per-request tokens blanked (the content of <meta name="ncbi_phid"> and the csrfmiddlewaretoken value), computed by data/omics/vep-use-cases-20261014/extract/pmc_html.py. The page is a mutable website: this hash describes the retrievals of 2026-10-14 (the collector's, and two by the reviewer, gave the same normalised hash); a later change to the page would change it. The raw bytes of the 2026-10-14 retrieval hashed to d84ecae985d9c3362e0b83596b7df28a13c8007230389a9a8f48fa9e1ba1178f.
limitations: Cited for its summary finding only; its tables are not extracted.
review: reviewer: claude; reviewer note: Claude review agent; no human review claimed. Independent Claude (Opus 5.5) review agent, separate from the extraction agent that built this batch. Automated review only. Transcription, not reproduction.; reviewed at: 2026-10-14T16:00:00Z; artifact sha256: e00fb418efba3924e47db1aba3be26835dbdbb9f0a4c14aca06a61215ca16ecf; retrieval url: https://pmc.ncbi.nlm.nih.gov/articles/PMC11393694/; method: source-hash-verification; method note: Re-downloaded on 2026-10-14 and matched the pinned SHA-256 (PMC pages after blanking the ncbi_phid and csrfmiddlewaretoken values, checked by an independent normaliser).; note: Hash matches.

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