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BioinformaticsNAR Genomics and Bioinformatics
Peer-reviewed journal article

Kmerator Suite: design of specific k-mer signatures andautomatic metadata discovery in large RNA-Seq datasets.

Sébastien RiquieriD, Chloé BessièreiD, Benoit Guibert, Anne-Laure Bougé, Anthony Boureux, Florence RuffléiD, Jérôme Audoux, Nicolas GilbertiD, Haoliang XueiD, Daniel GautheretiD, Thérèse CommesiD

Abstract

The huge body of publicly available RNA-seq libraries is a treasure of functional information allowing to quantify the expression of known or novel transcripts in tissues. However, transcript quantification commonly relies on alignment methods requiring a lot of computational resources and processing time, which does not scale easily to large datasets. K-mer decomposition constitutes a new way to process RNA-seq data for the identification of transcriptional signatures, as k-mers can be used to quantify accurately gene expression in a less resource-consuming way. We present the Kmerator Suite, a set of three tools designed to extract specific k-mer signatures, quantify these k-mers into RNA-seq datasets and quickly visualize large datasets characteristics. The core tool, Kmerator, produces specific k-mers for 97% of human genes, enabling the measure of gene expression with high accuracy in simulated datasets. KmerExploR, a direct application of Kmerator, uses a set of predictor genes specific k-mers to infer metadata including library protocol, sample features or contaminations from RNA-seq datasets. KmerExploR results are visualised through a user-friendly interface. Moreover, we demonstrate that the Kmerator Suite can be used for advanced queries targeting known or new biomarkers such as mutations, gene fusions or long non coding-RNAs for human health applications.

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02 /Specification & Classification

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