ArticleNature communications2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 32 citations in OpenAlex.
- Automated reanalysis of genomic data for rare disease diagnostics at scale.Nature medicine · 2026Article
- Integrating genomic medicine into primary care: a precision health model from Riyadh, Saudi Arabia.Family medicine and community health · 2026Article
- Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026Article
- Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.Neurology. Genetics · 2026Article
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- A case report: camptodactyly-arthropathy-coxa vara-pericarditis syndrome: confirmation of a previously undescribed PRG4 splicing variant using synovial tissue RNA studies.EULAR rheumatology open · 2026Article
- Review
- Article
- Identification of Intronic Variants inNeurology. Genetics · 2026Article
- Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.Annals of laboratory medicine · 2026Article
- Development on the Proficiency of Diagnosis and Clinical Care for Rare Diseases in Young Physicians in China.Health care science · 2025Article
- Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.Cell reports. Medicine · 2025Article
- Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.Journal of clinical medicine · 2025Review
- Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Alström syndrome: the journey to diagnosis.Orphanet journal of rare diseases · 2025Article
- Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders.PloS one · 2025Article
- An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy.Human genomics · 2024Article
- Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.NPJ genomic medicine · 2024Article
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
Corrections and comments
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Authors and funding
23 authors at 7 institutions in 1 country.
Funding
Abstract
Diagnostic whole genome sequencing (WGS) is increasingly used in rare diseases. However, standard, semi-automated WGS analysis may overlook diagnoses in complex disorders. Here, we show that specialist multidisciplinary analysis of WGS, following an initial 'no primary findings' (NPF) report, improves diagnostic rates and alters management. We undertook WGS in 102 adults with diagnostically challenging primary mitochondrial disease phenotypes. NPF cases were reviewed by a genomic medicine team, thus enabling bespoke informatic approaches, co-ordinated phenotypic validation, and functional work. We enhanced the diagnostic rate from 16.7% to 31.4%, with management implications for all new diagnoses, and detected strong candidate disease-causing variants in a further 3.9% of patients. This approach presents a standardised model of care that supports mainstream clinicians and enhances diagnostic equity for complex disorders, thereby facilitating access to the potential benefits of genomic healthcare. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project: http://www.genomicsengland.co.uk .
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Registered trials
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