Accurate isoform discovery with IsoQuant using long reads.

Prjibelski, Andrey D; Mikheenko, Alla; Joglekar, Anoushka; Smetanin, Alexander; Jarroux, Julien; Lapidus, Alla L; Tilgner, Hagen U · Nat Biotechnol · 2023

basic_science · Level V

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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.

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