Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Yong-Han Hank Cheng, Adriana Estela Sedeño-Cortés, Jane E. Ranchalis…·Andrew B. Stergachis
IsoRanker uses long-read transcriptomics to prioritize non-coding variants in Mendelian conditions by detecting expression outliers, allelic imbalance, and NMD, leading to the identification of pathogenic variants in one individual.
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