Biology subjects

Derzelle, A.

Publications and source records attributed to Derzelle, A..

4 recordsLinked to original sources

bioRxiv2025

SNooPy: a statistical framework for long-read metagenomic variant calling

Current long-read single-nucleotide variant callers were designed primarily for genomic data--particularly human genomes. While some have been used on metagenomic data, their underlying assumptions and training procedures fail to account for the inherent complexity of metagenomic samples. To date, no long-read variant caller has been purpose-built for metagenomic applications. To address this gap, we present SNooPy, a SNP-calling tool that implements a new statistical framework tailored to long-read metagenomic data. Unlike previous genomic methods, our approach makes no assumptions about the number of haplotypes present, their evolutionary relationships, or their sequence divergence. We demonstrate that SNooPy outperforms both traditional statistical and deep learning-based SNP callers. Our results suggest that future integration of this framework with deep learning approaches could further enhance variant calling performance. SNooPy is freely available on github.com/rolandfaure/snoopy.

bioinformatics↗

bioRxiv2024

Transgenerational chromosome repair in the asexual bdelloid rotifer Adineta vaga

Homologous recombination is an essential DNA repair mechanism that promotes chromosome pairing and ensures allele segregation during meiosis in sexual organisms. Here, we explore the dual function of homologous recombination in the bdelloid rotifer Adineta vaga, an ancient asexual species known for its remarkable resilience to extreme genotoxic stresses. Genomic analyses reveal that A. vaga uses meiotic recombination, both to promote spontaneous crossovers and gene conversion during oogenesis and to repair the genome in response to DNA damage. Our study identifies a novel transgenerational DNA repair mechanism, termed break-induced homologous extension repair (BIHER), which operates on single DNA ends to repair fragmented chromosomes over successive generations. Our findings suggest that meiotic BIHER, coupled with the holocentric structure of chromosomes, represents a key adaptation of life in extreme environments.

evolutionary biology↗

bioRxiv2020

Homologous chromosomes in asexual rotifer Adineta vaga suggest automixis

The several hundreds of species of bdelloid rotifers are notorious because they represent an ancient clade comprising only asexual lineages1. Moreover, most bdelloid species have the ability to withstand complete desiccation and high doses of ionizing radiation, being able to repair their DNA after massive genome breakage2. To better understand the impact of long-term asexuality and DNA breakage on genome evolution, a telomere-to-tolemere reference genome assembly of a bdelloid species is critical3, 4. Here we present the first, high quality chromosome-scale genome assembly for the bdelloid A. vaga validated using three complementary assembly procedures combined with chromosome conformation capture (Hi-C) data. The different assemblies reveal the same genome architecture and using fluorescent in situ hybridization (FISH), we demonstrate that the A. vaga genome is composed of six pairs of homologous chromosomes, compatible with meiosis. Moreover, the synteny between homoeologous (or ohnologous) chromosomes is also preserved, confirming their paleotetraploidy. The diploid genome structure of A. vaga and the presence of very long homozygous tracts show that recombination between homologous chromosomes occurs in this ancient asexual scandal, either during DSB repair or during meiotic pairing. These homozygosity tracts are mainly observed towards the chromosome ends in the clonal A. vaga suggesting signatures of a parthenogenetic mode of reproduction equivalent to central fusion automixis, in which homologous chromosomes are not segregated during the meiotic division.

evolutionary biology↗

bioRxiv2020

Overcoming uncollapsed haplotypes in long-read assemblies of non-model organisms

BackgroundThird-generation sequencing, also called long-read sequencing, is revolutionizing genome assembly: as PacBio and Nanopore technologies become more accessible in technicity and in cost, long-read assemblers flourish and are starting to deliver chromosome-level assemblies. However, these long reads are also error-prone, making the generation of a haploid reference out of a diploid genome a difficult enterprise. Although failure to properly collapse haplotypes results in fragmented and/or structurally incorrect assemblies and wreaks havoc on orthology inference pipelines, this serious issue is rarely acknowledged and dealt with in genomic projects, and an independent, comparative benchmark of the capacity of assemblers and post-processing tools to properly collapse or purge haplotypes is still lacking. ResultsTo fill this gap, we tested different assembly strategies on the genome of the rotifer Adineta vaga, a non-model organism for which high coverages of both PacBio and Nanopore reads were available. The assemblers we tested (Canu, Flye, NextDenovo, Ra, Raven, Shasta and wtdbg2) exhibited strikingly different behaviors when dealing with highly heterozygous regions, resulting in variable amounts of uncollapsed haplotypes. Filtering out shorter reads generally improved haploid assemblies, and we also benchmarked three post-processing tools aimed at detecting and purging uncollapsed haplotypes in long-read assemblies: HaploMerger2, purge_haplotigs and purge_dups. ConclusionsTesting these strategies separately and in combination revealed several approaches able to generate haploid assemblies with genome sizes, coverage distributions, and completeness close to expectations.

genomics↗