Article

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

2024-08-17

Abstract excerpt

<h4>Summary</h4> Despite rapid advancements in clinical sequencing, over half of diagnostic evaluations still lack definitive results. RNA-seq has shown promise in research settings for bridging this gap by providing essential functional data for accurate interpretation of diagnostic sequencing results. However, despite advanced research pipelines, clinical translation of diagnostic RNA-seq has not yet been reali...

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Literature Corpus work: 56b35e7a-3173-548d-94c2-4a7f58a2e1f3
DOI: 10.1101/2024.08.15.24312057

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