Article

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

2026-08-11

Abstract excerpt

Pediatric rare diseases are clinically and genetically heterogeneous, often resulting in delayed molecular diagnosis. In routine clinical practice, diagnostic outcomes reflect the combined performance of complete workflows that may differ in sample source, sequencing depth, laboratory procedures, bioinformatics, interpretation, and reporting. We compared two independent clinical diagnostic workflows applied in par...

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Literature Corpus work: ea6d14ad-43bd-5d7a-b6ca-e81198b336c9
DOI: 10.1186/s12920-026-02450-2

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