RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
Quinodoz, M.; Celik, E.; Kamdar, D.; Cancellieri, F.; Kaminska, K.; Ullah, M.; Barberan-Martinez, P.; Bouckaert, M.; Corton, M.; Delanote, E.; Fernandez-Caballero, L.; Garcia, G. G.; Holtes, L. K.; Karali, M.; Lopez, I.; Peter, V. G.; Schneider, N.; Vincke, L.; Ayuso, C.; Banfi, S.; Bocquet, B.; Coppieters, F.; Cremers, F.; Inglehearn, C.; Iwata, T.; Kalatzis, V.; Koenekoop, R. K.; Millan, J. M.; Sharon, D.; Toomes, C.; Rivolta, C.
Show abstract
Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest among all human genetic diseases, as well as diverse inheritance patterns. Despite advances in gene discovery, limited understanding of gene function and challenges in accurately interpreting variants continue to hinder both molecular diagnosis and genetic research in IRDs. One key problem is the absence of a comprehensive and widely accepted catalogue of disease genes, which would ensure consistent genetic testing and reliable molecular diagnoses. With the rapid pace of IRD gene discovery, gene catalogues require frequent validation and updates to remain clinically and scientifically useful. To address these gaps, we developed RetiGene, an expert-curated gene atlas that integrates variant data, bulk and single-cell RNA sequencing, and functional annotations. Through the integration of diverse data sources, RetiGene supports candidate gene prioritization, functional studies, and therapeutic development in IRDs.
Matching journals
The top 9 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis 93%
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy 93%
- Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders 92%
Similar papers in this journal
Similar papers in this journal
- The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK) 94%
- Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder 92%
- IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes 92%
Similar papers in this journal
- Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders 93%
- Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss 91%
- Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.