Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

ABSTRACT: Whole genome sequencing (WGS) comprehensively detects DNA sequence variation, enabling assessment of genetic disorders. The primary aim of this study was to investigate the diagnostic utility of WGS for pediatric musculoskeletal disorders by comparing it with whole exome sequencing (WES), which is more widely used but not as comprehensive in its coverage of the genome. This multi-center cohort study consists of WGS and WES analysis for 36 pediatric patients with musculoskeletal disorders of unknown etiology and, where available, their parents and siblings. WGS and WES were performed on DNA extracted from saliva samples. Secondary analysis of sequence data and tertiary analysis with interpretation of sequence variants were performed using the Illumina DRAGEN and Emedgene platforms, respecti

SUBMITTER: Brashear AM 

PROVIDER: S-EPMC12569193 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature