ArticleJournal of medical genetics2022
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Review
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted.Frontiers in pediatrics · 2026Article
- A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.European journal of human genetics : EJHG · 2025Article
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
- Article
- Unraveling the complexity of skeletal dysplasias in the national health system.Frontiers in endocrinology · 2025Article
- Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients.Revista da Associacao Medica Brasileira (1992) · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.NPJ digital medicine · 2024Article
- PANGEN: an online platform for the comparison and creation of diagnostic gene panels.Database : the journal of biological databases and curation · 2024Article
- Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.Orphanet journal of rare diseases · 2024Article
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.Orphanet journal of rare diseases · 2024Article
- Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.Human reproduction (Oxford, England) · 2024Article
- Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.European journal of human genetics : EJHG · 2024Article
- Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.Research square · 2023Article
- Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases.Journal of human genetics · 2023Article
- Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.Frontiers in medicine · 2023Review
- Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.American journal of medical genetics. Part A · 2023Article
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Authors and funding
28 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the vast array of different rare monogenic disorders. We have assessed a clinician-led and phenotype-based approach for virtual gene panel generation for analysis of targeted CES in patients with rare disease in a single institution.
methodsRetrospective survey of 400 consecutive cases presumed by clinicians to have rare monogenic disorders, referred on singleton basis for targeted CES. We evaluated diagnostic yield and variant workload to characterise the usefulness of a clinician-led approach for generation of virtual gene panels that can incorporate up to three different phenotype-driven gene selection methods.
resultsAbnormalities of the nervous system (54.5%), including intellectual disability, head and neck (19%), skeletal system (16%), ear (15%) and eye (15%) were the most common clinical features reported in referrals. Combined phenotype-driven strategies for virtual gene panel generation were used in 57% of cases. On average, 7.3 variants (median=5) per case were retained for clinical interpretation. The overall diagnostic rate of proband-only CES using personalised phenotype-driven virtual gene panels was 24%.
conclusionsOur results show that personalised virtual gene panels are a cost-effective approach for variant analysis of CES, maintaining diagnostic yield and optimising the use of resources for clinical genomic sequencing in the clinic.
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