Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

ABSTRACT:

Purpose

Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to address the remaining diagnostic gap.

Methods

We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive clinical genetic testing. Two other collaborative research cohorts, focused on aortopathy and dilated cardiomyopathy, consisted of individuals who were undiagnosed but had not undergone harmonized prior testing.

Results

We sequenced 353 families (754 participants) and found a molecular diagnosis i

SUBMITTER: Pitsava G 

PROVIDER: S-EPMC11703292 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature