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

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

2022Genome biology53 citationsDOIOpen Access PDF

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.

Topics & Concepts

Nanopore sequencingBiologyComputational biologyIdentification (biology)Reference genomeNanoporeGenomeSequence assemblyGenomicsTranscriptomeGeneticsGeneGene expressionNanotechnologyBotanyMaterials scienceGenomics and Phylogenetic StudiesMolecular Biology Techniques and ApplicationsNanopore and Nanochannel Transport Studies