ArticleHuman mutation2026
Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Human mutation · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The 2015 guidelines recommend using a large, diverse, and race-matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene-specific interpretations of ACMG/AMP guidelines, including population information. Our study evaluates VCEP guidelines on allele frequency information. Methods: We analyzed genetic codes in databases to determine the frequency and potential pathogenicity of variants among 39 VCEPs, considering factors like allele frequency thresholds and disease prevalence. Results: Our analysis found a variety of approved cutoffs among VCEPs, showing diverse disease mechanisms. We also noted variability in methods used to establish cutoffs and inconsistencies in parameters deemed necessary for approved thresholds. Conclusions: Understanding thresholds requires knowledge of genetics and diseases. VCEP guidelines on allele frequency evidence can help curators identify recommended thresholds. However, more guidance is needed for consistency in population evidence utilization.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.