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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
2025-11-13
genetic and genomic medicine
Title + abstract only
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Identifying pathogenic non-coding variants that contribute to Mendelian conditions remains challenging as the functional impact of these variants on gene function is often unknown. We present IsoRanker, a long-read transcriptome sequencing-based framework that prioritizes functionally relevant non-coding variants by detecting genes and novel isoforms with outlier expression, allelic imbalance, and/or nonsense-mediated decay (NMD). We generated paired cycloheximide-treated and untreated fibroblas...
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