ArticleNPJ genomic medicine2025
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed.
- Artificial Intelligence in Pediatric Cardiovascular Genetics: From Multimodal Diagnosis to Risk Prediction and Precision Therapeutics.International journal of molecular sciences · 2026Review
- Pathogenicity assessment of genetic variants in reproductive disorders.Journal of assisted reproduction and genetics · 2026Review
- Artificial Intelligence in Clinical Genetics: Current Applications and Challenges.Indian journal of pediatrics · 2026Review
- Artificial intelligence in genomic medicine: dispelling three myths.NPJ genomic medicine · 2026Article
- A novel phenotype-guided genome analysis pipeline for variant discovery.NPJ genomic medicine · 2026Article
- Article
- Advancing the frontier of rare disease modeling: a critical appraisal of in silico technologies.NPJ digital medicine · 2025Review
- Multi-class machine learning-based classification of SCID-related genetic variants.Immunologic research · 2025Article
Corrections and comments
- Update of
Authors and funding
7 authors.
Funding
Abstract
Genetic testing is essential for diagnosing and managing clinical conditions, particularly rare Mendelian diseases. Although efforts to identify rare phenotype-associated variants have focused on protein-truncating variants, interpreting missense variants remains challenging. Deep learning algorithms excel in various biomedical tasks
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.