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% to 40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.

Methods

We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive 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 in 54 (15.3%) of them. Of these diagnoses, 5

SUBMITTER: Pitsava G 

PROVIDER: S-EPMC12501780 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature