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Accurate isoform discovery with IsoQuant using long reads.


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.

SUBMITTER: Prjibelski AD 

PROVIDER: S-EPMC10344776 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Accurate isoform discovery with IsoQuant using long reads.

Prjibelski Andrey D AD   Mikheenko Alla A   Joglekar Anoushka A   Smetanin Alexander A   Jarroux Julien J   Lapidus Alla L AL   Tilgner Hagen U HU  

Nature biotechnology 20230102 7


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 performa  ...[more]

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