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Sarrasin, M.

Publications and source records attributed to Sarrasin, M..

2 recordsLinked to original sources

Eukan: a fully automated nuclear genome annotation pipeline for less studied and divergent eukaryotes

Here, we introduce a new annotation pipeline, called Eukan, designed to deliver reliably high-quality results across a broad range of eukaryotes. First, experimental evidence is automatically leveraged to refine predictions, specifically, RNA-Seq coverage to inform gHMM gene prediction, and intron lengths to inform protein sequence alignments. Second, a consensus is created from an empirically optimized weighting of gene models from multiple sources. Third, Eukan runs a post-annotation routine to recover gene models missing from the consensus that otherwise have strong transcript support and appear to be protein-coding. We compare the results of Eukan with those of three popular freely-available pipelines (Maker, Braker, Gemoma) on 17 phylogenetically diverse haploid and diploid nuclear genomes. In addition to the commonly reported annotation accuracy statistics, we define a novel classification system of critical defects commonly observed in automated annotations. Furthermore, we developed a statistical model that demonstrates each of the tested pipelines correctly identified the majority of the validated "Gold Standard" gene models across the test set, but each pipeline uniquely generates a non-negligible portion of either fragmented, artificially fused, or missing gene models. Despite that, we demonstrate that Eukan performs consistently well where other pipelines encounter challenges, such as for compact protist genomes. ContactMatt Sarrasin; matt.sarrasin@umontreal.ca

bioinformatics↗

Chromosome-scale assemblies of Acanthamoeba castellanii genomes provide insights into Legionella pneumophila infection-related chromatin re-organization

The unicellular amoeba Acanthamoeba castellanii is ubiquitous in aquatic environments, where it preys on bacteria. The organism also hosts bacterial endosymbionts, some of which are parasitic, including human pathogens such as Chlamydia and Legionella spp. Here we report complete, high quality genome sequences for two extensively studied A. castellanii strains, Neff and C3. Combining long- and short-read data with Hi-C, we generated near chromosome-level assemblies for both strains with 90% of the genome contained in 29 scaffolds for the Neff strain and 31 for the C3 strain. Comparative genomics revealed strain-specific functional enrichment, most notably genes related to signal transduction in the C3 strain, and to viral replication in Neff. Furthermore, we characterized the spatial organization of the A. castellanii genome and showed that it is reorganized during infection by Legionella pneumophila. Infection-dependent chromatin loops were found to be enriched in genes for signal transduction and phosphorylation processes. In genomic regions where chromatin organization changed during Legionella infection, we found functional enrichment for genes associated with metabolism, organelle assembly, and cytoskeleton organization, suggesting that changes in chromosomal folding are associated with host cell biology during infection.

genomics↗