TrEMOLO: accurate transposable element allele frequency estimation using long-read sequencing data combining assembly and mapping-based approaches

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Mohamed, Mourdas | Sabot, François | Varoqui, Marion | Mugat, Bruno | Audouin, Katell | Pélisson, Alain | Fiston-Lavier, Anna-Sophie | Chambeyron, Séverine

Edité par CCSD ; BioMed Central -

International audience. Abstract Transposable Element MOnitoring with LOng-reads (TrEMOLO) is a new software that combines assembly- and mapping-based approaches to robustly detect genetic elements called transposable elements (TEs). Using high- or low-quality genome assemblies, TrEMOLO can detect most TE insertions and deletions and estimate their allele frequency in populations. Benchmarking with simulated data revealed that TrEMOLO outperforms other state-of-the-art computational tools. TE detection and frequency estimation by TrEMOLO were validated using simulated and experimental datasets. Therefore, TrEMOLO is a comprehensive and suitable tool to accurately study TE dynamics. TrEMOLO is available under GNU GPL3.0 at https://github.com/DrosophilaGenomeEvolution/TrEMOLO . . Transposable Element MOnitoring with LOng-reads (TrEMOLO) est un nouveau logiciel qui combine des approches basées sur l'assemblage et le mapping pour détecter de manière robuste les éléments génétiques appelés éléments transposables (TE). En utilisant des assemblages génomiques de haute ou basse qualité, TrEMOLO peut détecter la plupart des insertions et des délétions de TE, et estimer leur fréquence allélique dans les populations. Des tests avec des données simulées ont révélé que TrEMOLO surpasse d'autres outils computationnels de pointe. La détection des TE et l'estimation de leur fréquence par TrEMOLO ont été validées à l'aide de jeux de données simulées et expérimentales. Par conséquent, TrEMOLO est un outil complet et adapté pour étudier avec précision la dynamique des TE. TrEMOLO est disponible sous la licence GNU GPL3.0 à l'adresse https://github.com/DrosophilaGenomeEvolution/TrEMOLO.

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