Article

Detecting aberrant splicing events in short-read RNA-seq with SAMI, an UMI-aware Nextflow pipeline

2025-03-13

Abstract excerpt

<h4>Summary</h4> Despite RNA-sequencing solutions have existed for 15 years, successfully replacing micro-arrays for gene expression profiling, their potential to analyse splicing is still to be achieved in clinical settings. Powerful tools were developed to quantify known iso-forms, to compare sample groups or to identify outliers in large datasets, but most fail to address the most common situation in routine d...

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Literature Corpus work: 3db57cef-58c7-5ebd-abab-ade9520a5274
DOI: 10.1101/2025.03.10.642333

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