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

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 diseas...

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Veröffentlicht in:Genome Biology 2022-07, Vol.23 (1), p.1-153, Article 153
Hauptverfasser: de la Rubia, Ivan, Srivastava, Akanksha, Xue, Wenjing, Indi, Joel A, Carbonell-Sala, Silvia, Lagarde, Julien, Albà, M. Mar, Eyras, Eduardo
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Sprache:eng
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Zusammenfassung: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.
ISSN:1474-760X
1474-7596
1474-760X
DOI:10.1186/s13059-022-02715-w