Article

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care

2025-10-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> exome (ES) or genome (GS) sequencing are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of GS continues to be debated. <h4>Methods</h4> This prospective randomized trial involving all Belgian Human Genetics centers compared the standard of care (SoC) - combining ES and chromosomal microarray anal...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: da183899-0d52-59d4-8212-f8ca3301e231
DOI: 10.1101/2025.10.18.25328208

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of careDOI 10.1101/2025.10.18.25328208Read

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disordersSemantic proximity Read

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disordersSemantic proximity Read

Optimising diagnostic yield in highly penetrant genomic diseaseSemantic proximity Read

A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseasesSemantic proximity Read

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.Semantic proximity Read

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disordersSemantic proximity Read

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseasesSemantic proximity Read

Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialSemantic proximity Read

Genomic diagnosis for children with intellectual disability and/or developmental delaySemantic proximity Read

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single centerSemantic proximity Read

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populationsSemantic proximity Read

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSemantic proximity Read