Litcius/Paper detail

Accurate isoform discovery with IsoQuant using long reads

Andrey D. Prjibelski, Alla Mikheenko, Anoushka Joglekar, Alexander Smetanin, Julien Jarroux, Alla Lapidus, Hagen Tilgner

2023Nature Biotechnology257 citationsDOIOpen Access PDF

Abstract

Annotating newly sequenced genomes and determining alternative isoforms from long-read RNA data are complex and incompletely solved problems. Here we present IsoQuant-a computational tool using intron graphs that accurately reconstructs transcripts both with and without reference genome annotation. For novel transcript discovery, IsoQuant reduces the false-positive rate fivefold and 2.5-fold for Oxford Nanopore reference-based or reference-free mode, respectively. IsoQuant also improves performance for Pacific Biosciences data.

Topics & Concepts

Gene isoformComputational biologyFocus (optics)BiologyGeneticsGeneOpticsPhysicsNatural Language Processing TechniquesTopic ModelingGenomics and Phylogenetic Studies