Article

Comparative analysis of WGS and WES for genetic diagnosis in a pediatric Albanian population

2025-07-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Rare diseases affect over 300 million people worldwide, with more than half of these cases presenting in childhood. Despite advances in genomic technologies, significant diagnostic delays remain, particularly in underrepresented populations. Although whole-genome sequencing is expected to be more effective than whole-exome sequencing, there are currently no direct patient-le...

Topics

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

Identifiers and source

Literature Corpus work: 40e6be06-6a29-5621-9aaa-6a82d7a38417
DOI: 10.1101/2025.07.24.25332056

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comparative analysis of WGS and WES for genetic diagnosis in a pediatric Albanian populationDOI 10.1101/2025.07.24.25332056Read

Real-world comparison of genome- and exome-based diagnostic workflows in a pediatric Albanian rare disease cohortSemantic proximity Read

The Genomic Landscape of Rare Disorders in the Middle EastSemantic proximity Read

Whole Genome Sequencing for the Diagnosis of Rare DisordersSemantic 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

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

Recommendations for whole genome sequencing in diagnostics for rare diseases.Semantic proximity Read

The genomic landscape of rare disorders in the Middle EastSemantic proximity Read

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

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern ChinaSemantic proximity Read

Whole Exome Sequencing in Pediatric Rare Diseases: Genomic Insights and Clinical Utility from single canter Indian CohortSemantic proximity Read

NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific ApplicationsSemantic proximity Read