Genome Biology (Jul 2022)

RATTLE: reference-free reconstruction and quantification of transcriptomes from Nanopore sequencing

  • Ivan de la Rubia,
  • Akanksha Srivastava,
  • Wenjing Xue,
  • Joel A. Indi,
  • Silvia Carbonell-Sala,
  • Julien Lagarde,
  • M. Mar Albà,
  • Eduardo Eyras

DOI
https://doi.org/10.1186/s13059-022-02715-w
Journal volume & issue
Vol. 23, no. 1
pp. 1 – 21

Abstract

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Abstract Nanopore sequencing enables the efficient and unbiased measurement of transcriptomes. Current methods for transcript identification and quantification rely on mapping reads to a reference genome, which precludes the study of species with a partial or missing reference or the identification of disease-specific transcripts not readily identifiable from a reference. We present RATTLE, a tool to perform reference-free reconstruction and quantification of transcripts using only Nanopore reads. Using simulated data and experimental data from isoform spike-ins, human tissues, and cell lines, we show that RATTLE accurately determines transcript sequences and their abundances, and shows good scalability with the number of transcripts.