September 11, 2025Genetics in MedicineOpen Access

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

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Research reveals genome sequencing improved diagnosis in patients with undetermined Mendelian conditions, highlighting pseudoexons' role.

Genome sequencing identified molecular diagnoses in 15.3% of cases, with many missed variants in uninterrogated regions.
Approximately 55.5% of newly recognized variants were deep intronic, directly affecting RNA splicing and causing pseudoexons.
Using short-read genome sequencing, the study aimed to bridge the diagnostic yield gap in rare genetic diseases.
Findings suggest that pseudoexons serve as a frequent mechanism for deep intronic variants contributing to Mendelian disorders.

Pitsava et al. (2025) studied this question.

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