Article
Diagnostic yield of whole exome sequencing in a cohort of 825 patients
2 Sept 2025
Abstract excerpt
Genetic testing plays a significant role in rare disease diagnostics. The most widespread technology for genetic testing of patients is next generation sequencing or second-generation sequencing, including whole exome sequencing (WES). Our laboratory performed diagnostic WES on 1660 samples representing 825 index patients aged 0-84 years between 2014 and 2020. The cohort is comprised of consecutive patients with...
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