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The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

2025-01-29 genetic and genomic medicine Title + abstract only
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Clinical RNA-seq has become an essential tool for resolving variants of uncertain significance (VUS), particularly those affecting gene expression and splicing. However, most reference data and diagnostic protocols employ relatively modest sequencing depths ([~]50-150 million reads), which may fail to capture low-abundance transcripts and rare splicing events critical for accurate diagnoses. We evaluated the diagnostic and translational utility of ultra-high-depth (up to [~]one billion unique re...

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