ReviewFrontiers in molecular biosciences2023
Resources and tools for rare disease variant interpretation.
Review in Frontiers in molecular biosciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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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.
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Who cites it
14 citing papers in PubMed.
- Interpreting human genetic variation at atomic resolution.Nature genetics · 2026Review
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- ChatTogoVar: a TogoVar-based retrieval-augmented generation system for precise genomic variant interpretation.Human genome variation · 2026Article
- Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.Genes · 2026Review
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce.Briefings in bioinformatics · 2025Article
- Federated learning for the pathogenicity annotation of genetic variants in multi-site clinical settings.Bioinformatics (Oxford, England) · 2025Article
- Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions.BMC genomics · 2025Article
- An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.Human genetics · 2025Article
- Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.Pediatric research · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.BMC medical genomics · 2024Article
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- Review
Corrections and comments
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Authors and funding
22 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular mechanisms of these diseases and the development of therapeutic treatments for patients are also challenging. However, the application of recent advancements in genome sequencing/analysis technologies and computer-aided tools for predicting phenotype-genotype associations can bring significant benefits to this field. In this review, we highlight the most relevant online resources and computational tools for genome interpretation that can enhance the diagnosis, clinical management, and development of treatments for rare disorders. Our focus is on resources for interpreting single nucleotide variants. Additionally, we present use cases for interpreting genetic variants in clinical settings and review the limitations of these results and prediction tools. Finally, we have compiled a curated set of core resources and tools for analyzing rare disease genomes. Such resources and tools can be utilized to develop standardized protocols that will enhance the accuracy and effectiveness of rare disease diagnosis.
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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.