Genetic & Genomic MedicinemedRxivPreprint
Comparative analysis of WGS and WES for genetic diagnosis in a pediatric Albanian population.
Paskal Cullufi, Mirela Tabaku, Aliaksandr Skrahin…·Avenida P. H. Rolfs
This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in a pediatric Albanian population, finding WGS more effective in diagnosing rare genetic disorders and identifying complex variants.
DOI 10.1101/2025.07.24.25332056