ArticleDatabase : the journal of biological databases and curation2025
VarGuideAtlas: a repository of variant interpretation guidelines.
Article in Database : the journal of biological databases and curation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Applications of artificial intelligence in early childhood health management: a systematic review from fetal to pediatric periods.Frontiers in pediatrics · 2025Pooled it
- Deep DNA and protein level feature integration for robust clinical variant interpretation using probabilistic gradient boosting.Frontiers in digital health · 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
3 authors.
Funding
Abstract
Variant interpretation guidelines guide the process of determining the role of DNA variants in patients' health. Currently, hundreds of guidelines exist, each applicable to a particular clinical domain. However, they are scattered across multiple resources and scientific literature. To address this issue, we present VarGuideAtlas, a comprehensive repository of variant interpretation guidelines that compiles information from ClinGen, ClinVar, and PubMed. Our repository offers a user-friendly web interface with advanced search capabilities, enabling clinicians and researchers to efficiently find relevant guidelines tailored to specific genes, diseases, or variant types. We employ ontologies to characterize each guideline, ensuring consistency and improving interoperability with bioinformatics tools. VarGuideAtlas represents a significant advance toward standardizing variant interpretation practices, facilitating more informed decision-making, improved clinical outcomes, and more precise genomic research. VarGuideAtlas is publicly accessible via a web-based platform (https://genomics-hub.pros.dsic.upv.es:3016/).
Indexed as
Identifiers
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.