ArticleGenome biology2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Article in Genome biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 111 papers.
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Who cites it
111 citing papers in PubMed.
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- Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.Orphanet journal of rare diseases · 2025Article
- A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.International journal of molecular sciences · 2025Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- 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
- Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.Human genomics · 2024Review
- High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.Investigative ophthalmology & visual science · 2024Article
- Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.NPJ genomic medicine · 2024Article
- Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics · 2024Article
- Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.Journal of molecular cell biology · 2023Article
- Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.Intractable & rare diseases research · 2023Article
- Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.American journal of human genetics · 2023Article
- Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.Frontiers in neurology · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Article
- Eczema herpeticumWorld journal of clinical cases · 2022Article
- Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.Journal of clinical medicine · 2022Article
- Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.Journal of medical genetics · 2022Article
51 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a next-generation sequencing-based multiplexing assay that encompasses the ~3000 known Mendelian genes. This assay, which we term the Mendeliome, comprises 13 gene panels based on clinical themes, covering the spectrum of pediatric and adult clinical genetic medicine. We explore how these panels compare with clinical whole exome sequencing (WES).
resultsWe tested 2357 patients referred with suspected genetic diagnoses from virtually every medical specialty. A likely causal mutation was identified in 1018 patients, with an overall clinical sensitivity of 43 %, comparing favorably with WES. Furthermore, the cost of clinical-grade WES is high (typically more than 4500 US dollars), whereas the cost of running a sample on one of our panels is around 75-150 US dollars, depending on the panel. Of the "negative" cases, 11 % were subsequently found by WES to harbor a likely causal mutation in a known disease gene (largely in genes identified after the design of our assay), as inferred from a representative sample of 178. Although our study population is enriched for consanguinity, 245 (24 %) of solved cases were autosomal dominant and 35 (4 %) were X-linked, suggesting that our assay is also applicable to outbred populations.
conclusionsDespite missing a significant number of cases, the current version of the Mendeliome assay can account for a large proportion of suspected genetic disorders, and provides significant practical advantages over clinical WES.
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