Article

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

2024-12-26

Abstract excerpt

<h4>Purpose</h4> 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. <h4>Methods</h4> We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREG...

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Literature Corpus work: f269bbef-3b58-5730-8803-0e78bbfe45e9
DOI: 10.1101/2024.12.21.24318325

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