ArticleFrontiers in genetics2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Review
- PDXK Mutation Causes a Late-Onset Pyridoxal 5'-Phosphate-Responsive Peripheral Neuropathy Preceded by Neonatal Seizures: Authors' Reply.Indian journal of pediatrics · 2026Article
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.Genetics in medicine open · 2026Article
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Authors and funding
32 authors.
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Abstract
Introduction: A trio analysis refers to the strategy of exome or genome sequencing of DNA from a patient, as well as parents, in order to identify the genetic cause of a disorder or syndrome. Methods: During the last 10 years, we have successfully applied exome or genome sequencing and performed trio analysis for 1,000 patients. Results: Overall, 39% of the patients were diagnosed, with the detection of causative variant(s). The variants were located in 308 different genes. Autosomal dominant Discussion: A major advantage of trio analysis is the immediate identification of
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