ArticleHuman genetics2023
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Article in Human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed.
- The prevalence of protein misfolding as a mechanism for hereditary deafness.PLoS genetics · 2026Article
- Long-Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Molecular Determinants of TMC Protein Biogenesis and Trafficking.International journal of molecular sciences · 2025Article
- Human organoids for rapid validation of gene variants linked to cochlear malformations.Human genetics · 2025Article
- Association of VDR and TMPRSS2 gene polymorphisms with COVID-19 severity: a computational and clinical study.Molecular biology reports · 2025Article
- Global trends and hotspots in research for sudden hearing loss over the past two decades: a bibliometric and visualization analyses.Frontiers in neurology · 2025Review
- Article
- Force Field X: A computational microscope to study genetic variation and organic crystals using theory and experiment.The Journal of chemical physics · 2024Article
- Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations.Research square · 2024Article
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.European journal of human genetics : EJHG · 2024Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- Functional Studies of Deafness-Associated Pendrin and Prestin Variants.International journal of molecular sciences · 2024Article
- The transcription factorFrontiers in cellular neuroscience · 2024Article
- Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).Ophthalmology. GlaucomaArticle
Corrections and comments
- Update of
Authors and funding
13 authors.
Funding
Abstract
Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6328 pathogenic missense variants, making deafness-specific expertise a prerequisite for ascribing phenotypic consequences to genetic variants. Deafness-implicated variants are curated in the Deafness Variation Database (DVD) after classification by a genetic hearing loss expert panel and thorough informatics pipeline. However, seventy percent of the 128,167 missense variants in the DVD are "variants of uncertain significance" (VUS) due to insufficient evidence for classification. Here, we use the deep learning protein prediction algorithm, AlphaFold2, to curate structures for all DVD genes. We refine these structures with global optimization and the AMOEBA force field and use DDGun3D to predict folding free energy differences (∆∆G
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.