ReviewHuman mutation2022
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Review in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
What it found
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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
47 citing papers in PubMed.
- Functional effect predictions for ion channel missense variants using a protein language model.Journal of human genetics · 2026Article
- aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.NPJ genomic medicine · 2026Article
- Multimodal integrated knowledge transfer to large language models through preference optimization with biomedical applications.Patterns (New York, N.Y.) · 2026Article
- Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.Journal of medical Internet research · 2026Article
- RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.Genome medicine · 2026Article
- "The Way We Do Things is Unsustainable"-Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics.Prenatal diagnosis · 2026Article
- Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.European journal of human genetics : EJHG · 2026Article
- Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.Health and technology · 2026Article
- Article
- Review
- Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations.medRxiv : the preprint server for health sciences · 2026Article
- Structuring integration for patient-centered care: a review-informed ontology-driven modular front-end framework for digital health innovation.Frontiers in digital health · 2026Article
- Referral route: a determinant of inequity for children with undiagnosed genetic diseases?Frontiers in genetics · 2026Article
- Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce.Briefings in bioinformatics · 2025Article
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.Genome medicine · 2025Article
- geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders.Molecular genetics & genomic medicine · 2025Article
- Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project.Briefings in bioinformatics · 2025Article
- A Hypergraph powered approach to Phenotype-driven Gene Prioritization and Rare Disease Prediction.Scientific reports · 2025Article
- Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China's Rare Disease Catalog: Comparative Study.Journal of medical Internet research · 2025Article
- Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language Models.Journal of medical Internet research · 2025Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Rare disease diagnostics and disease gene discovery have been revolutionized by whole-exome and genome sequencing but identifying the causative variant(s) from the millions in each individual remains challenging. The use of deep phenotyping of patients and reference genotype-phenotype knowledge, alongside variant data such as allele frequency, segregation, and predicted pathogenicity, has proved an effective strategy to tackle this issue. Here we review the numerous tools that have been developed to automate this approach and demonstrate the power of such an approach on several thousand diagnosed cases from the 100,000 Genomes Project. Finally, we discuss the challenges that need to be overcome if we are going to improve detection rates and help the majority of patients that still remain without a molecular diagnosis after state-of-the-art genomic interpretation.
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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.