Diagnostic yield of whole exome sequencing in a cohort of 825 patients

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The diagnostic yield of whole exome sequencing was 33.7%, providing insights into rare diseases among patients.
Of the 825 patients tested, 278 received a genetic diagnosis after whole exome sequencing.
Patients with complex phenotypes were more likely to receive a genetic diagnosis compared to simpler cases.
Higher diagnostic yields were noted in patients with growth abnormalities and issues related to the ear or musculoskeletal system.

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Observational analysis found a 33.7% diagnostic yield in patients with rare diseases, indicating WES identifies genetic variants effectively.

Andersen et al. (2025) studied this question.

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Observational analysis found a 33.7% diagnostic yield in patients with rare diseases, indicating WES identifies genetic variants effectively.