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Audoux, J.

Publications and source records attributed to Audoux, J..

2 recordsLinked to original sources

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

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.

bioinformatics↗

Exhaustive capture of biological variation in RNA-seq data through k-mer decomposition

Each individual cell produces its own set of transcripts, which is the combined result of genetic variation, transcription regulation and post-transcriptional processing. Due to this combinatorial nature, obtaining the exhaustive set of full-length transcripts for a given species is a never-ending endeavor. Yet, each RNA deep sequencing experiment produces a variety of transcripts that depart from the reference transcriptome and should be properly identified. To address this challenge, we introduce a k-mer-based software protocol for capturing local RNA variation from a set of standard RNA-seq libraries, independently of a reference genome or transcriptome. Our software, called DE-kupl, analyzes k-mer contents and detects k-mers with differential abundance directly from the raw data files, prior to assembly or mapping. This enables to retrieve the virtually complete set of unannotated variation lying in an RNA-seq dataset. This variation is subsequently assigned to biological events such as differential lincRNAs, antisense RNAs, splice and polyadenylation variants, introns, expressed repeats, and SNV-harboring or exogenous RNA. We applied DE-kupl to public RNA-seq datasets, including an Epythelial-Mensenchymal Transition model and different human tissues. DE-kupl identified abundant novel events and showed excellent reproducibility when applied to independent deep sequencing experiments. DE-kupl is a new paradigm for analyzing differential RNA-seq data with no preconception on target events, which can also provide fresh insights into existing RNA-seq repositories.

bioinformatics↗