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Comparative analysis of WGS and WES for genetic diagnosis in a pediatric Albanian population.
2025-07-28
genetic and genomic medicine
Title + abstract only
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BackgroundRare 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-level comparisons from Albania. MethodsWe conducted a prospective, head-to-head comparison of whole-genome sequenc...
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