Litcius/Paper detail

Identifying and quantifying isoforms from accurate full-length transcriptome sequencing reads with Mandalorion

Roger Volden, Kayla D. Schimke, Ashley Byrne, Danilo Dubocanin, Matthew S. Adams, Christopher Vollmers

2023Genome biology38 citationsDOIOpen Access PDF

Abstract

In this manuscript, we introduce and benchmark Mandalorion v4.1 for the identification and quantification of full-length transcriptome sequencing reads. It further improves upon the already strong performance of Mandalorion v3.6 used in the LRGASP consortium challenge. By processing real and simulated data, we show three main features of Mandalorion: first, Mandalorion-based isoform identification has very high precision and maintains high recall even in the absence of any genome annotation. Second, isoform read counts as quantified by Mandalorion show a high correlation with simulated read counts. Third, isoforms identified by Mandalorion closely reflect the full-length transcriptome sequencing data sets they are based on.

Topics & Concepts

BiologyTranscriptomeComputational biologyIdentification (biology)Deep sequencingGenomeAnnotationDNA sequencingGeneticsGene isoformCancer genome sequencingGenomicsGeneGene expressionBotanyGenomics and Phylogenetic StudiesRNA and protein synthesis mechanismsRNA modifications and cancer