ReviewBriefings in bioinformatics2025
The promises and pitfalls of automated variant interpretation: a comprehensive review.
Review in Briefings in bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
7 citing papers in PubMed.
- In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional Motifs.Research square · 2026Article
- Can automated copy number variation pathogenicity prediction tools replace manual review under the ACMG framework? A clinical validation.Global medical genetics · 2026Article
- A scalable approach to resolving variants of uncertain significance.bioRxiv : the preprint server for biology · 2026Article
- Harnessing artificial intelligence for genomic variant prediction: advances, challenges, and future directions.GigaScience · 2026Review
- Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.Genes · 2026Review
- Imagining Genomics and Population Health in 2050: Anticipating Future Research, Policy, and Governance Needs.Public health genomics · 2026Article
- The promises and pitfalls of automated variant interpretation: a comprehensive review.Briefings in bioinformatics · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
The interpretation of DNA variants enables personalized medicine through precise diagnosis and treatment selection. To address the challenges of manual interpretation, a wide range of automated tools has been created. This study evaluates these tools through a comprehensive analysis of their features, methodologies, and performance assessment against the interpretations of the ClinGen Expert Panel for 256 variants associated with cardiomyopathies, hereditary cancer, or monogenic diabetes. Although the tools demonstrated high accuracy for clearly pathogenic/benign variants, they showed significant limitations with variants of uncertain significance (VUS). Despite current advances in automation for variant interpretation, our findings show that expert oversight is still needed when using these tools in a clinical context, particularly for VUS interpretation.
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What OpenQuestion holds
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.