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Rognes, T.

Publications and source records attributed to Rognes, T..

8 recordsLinked to original sources

Benchmarking 16S rRNA gene amplicon analysis in high-diversity microbial communities reveals fundamental trade-offs in clustering and denoising

Background: Amplicon sequencing of the 16S rRNA gene is widely used to characterise microbial communities, but the performance of commonly used clustering and denoising pipelines has not been systematically evaluated for highly diverse environmental datasets. We therefore benchmarked four established clustering and denoising pipelines, VSEARCH cluster_size, UNOISE as implemented in VSEARCH, Swarm, and DADA2, using simulated microbial communities with known ground-truth compositions and evaluated how performance varied with species richness, abundance unevenness, sequencing depth, and minimum abundance threshold. Results: Differences among pipelines were small at low species richness but became greater as species richness increased. High average cluster purity did not necessarily correspond to accurate species-level recovery, as species could be split across multiple clusters or recovered incompletely. Among the pipelines, UNOISE may be preferable when high species representation and cluster purity are prioritised, while also showing strong reconstruction of relative abundance profiles, albeit with extensive species splitting and many unclustered reads. DADA2 showed similarly strong reconstruction of relative abundance profiles and less species splitting but represented fewer species and had lower cluster purity at higher richness. Swarm provided a balanced compromise between species representation and splitting, whereas cluster_size may be useful when limiting species splitting is a priority, despite weaker reconstruction of relative abundance profiles. Increasing the minimum abundance threshold reduced species splitting but also reduced the number of clusters and perfect clusters and, at higher thresholds, decreased concordance with ground-truth relative abundance profiles. These effects were more pronounced at lower sequencing depths. Analysis of seafloor sediment samples also showed threshold-dependent sequence loss, including the loss of sequences repeatedly detected across replicate samples. Conclusions: Pipeline performance in highly diverse 16S rRNA amplicon datasets varies with dataset characteristics, evaluation criteria, and parameter settings. Pipeline selection should therefore reflect dataset characteristics and the analytical objective rather than rely on a single measure of performance, and minimum abundance thresholds should be evaluated in relation to sequencing depth rather than applied as fixed defaults. These findings emphasise the importance of reconsidering established analytical practices and transparently reporting bioinformatic settings as 16S rRNA amplicon sequencing is increasingly applied to highly diverse environmental microbial communities.

bioinformatics↗

Rsearch: An R interface to VSEARCH supporting visualization and parameter tuning

Background: We present Rsearch, an R package that integrates the core functionality of VSEARCH into the R environment and extends it with visualization, parameter optimization, and conversion tools for compatibility with other R packages. By making VSEARCH directly accessible in R, Rsearch lowers the barrier for using VSEARCH and integrating it with downstream statistical and ecological analyses. Results: Comparative analysis with DADA2 using mock community data showed that both pipelines produced relative abundance profiles highly correlated with the expected composition. Compared to DADA2, Rsearch identified fewer OTUs, but these were more consistently prevalent across samples. In contrast, DADA2 appeared to overestimate diversity by splitting sequences into an excessive number of OTUs. In terms of computational performance, vs_cluster_unoise implemented in Rsearch was the fastest of all the clustering and denoising methods, while other Rsearch functions showed runtimes comparable to DADA2. In addition, Rsearch provides functions for systematic optimization of trimming and filtering parameters, an important feature for users who may not otherwise have a clear strategy for parameter selection. The package also includes functions to ensure compatibility with other R packages such as phyloseq. Conclusions: Rsearch offers a practical and accessible framework for analysing metabarcoding data within a single analytical environment and is freely available from The Comprehensive R Archive Network, with the development version hosted on GitHub (https://github.com/CassandraHjo/Rsearch).

bioinformatics↗

VirMake: a flexible and user-friendly pipeline for viral taxonomic and functional characterisation from shotgun metagenomic sequencing data

BackgroundBacteriophages (phages) are recognized as key regulators of microbial communities, and it is pivotal to understand viral ecology, diversity, and evolution. However, identification and characterization of phages from shotgun metagenome sequencing pose unique bioinformatic challenges owing to the inherent complexity and scale of the data. ResultsHere, we introduce VirMake, a comprehensive, flexible, and scalable pipeline developed for viral taxonomic and functional analysis of shotgun metagenome data. It enables high-throughput end-to-end processing, assembly, and annotation of metagenomic data, including viral sequence identification, taxonomic and functional annotation, and using a modular framework, allows users to integrate viral analysis at different stages of metagenome data analysis. VirMake can be installed on Linux operating systems that support Conda and is freely available at https://github.com/Rounge-lab/VirMake. Here, we showcase VirMake capabilities using three metagenome datasets of varying sizes (up to 2.9 Tbp), generated from various environments (human gut and water) and using different sample preparation protocols (VLP enrichment and bulk DNA extraction). ConclusionsVirMake enabled robust processing of all datasets, showing viral genome richness, taxonomy and integration status to vary according to sampling environments and laboratory protocols.

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HoCoRT: Host contamination removal tool

BackgroundShotgun metagenome sequencing data obtained from a host environment will usually be contaminated with sequences from the host organism. Host sequences should be removed before further analysis to avoid biases, to reduce downstream computational load, or for privacy reasons in case of a human host. The tools that we identified as designed specifically to perform host contamination sequence removal were either outdated, not maintained or complicated to use. We have therefore created HoCoRT, a fast and user friendly tool that implements several methods for optimised host sequence removal, and evaluated the speed and accuracy of these methods. ResultsHoCoRT is an open-source command-line tool for host contamination removal. It is designed to be simple to install and use, including a one-step option for genome indexing. HoCoRT uses a range of well-known mapping, classification and alignment methods for the classification of reads. The underlying classification method to be used and its parameters are selectable by the user, enabling adaptation to different circumstances. Based on our investigation of the performance of a range of methods and parameters on artificial human gut and oral microbiomes, recommendations are provided for typical data sets with short and long reads. ConclusionsTo decontaminate a human microbiome with HoCoRT, the best combination of speed and accuracy was found with BioBloom, Bowtie2 in end-to-end mode, or HISAT2 for short reads, while BioBloom performed best for long reads. For the oral microbiome, Bowtie2 was slightly more accurate than the other two, at the expense of speed. HoCoRT using Bowtie2 in end-to-end mode was found to be much faster and slightly more accurate than the dedicated DeconSeq tool. HoCoRT is distributed as a Bioconda package. Source code and documentation are available at https://github.com/ignasrum/hocort for Linux and macOS under the MIT licence.

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MoDLE: High-performance stochastic modeling of DNA loop extrusion interactions

DNA loop extrusion emerges as a key process establishing genome structure and function. We introduce MoDLE, a computational tool for fast, stochastic modeling of molecular contacts from DNA loop extrusion capable of simulating realistic contact patterns genome wide in a few minutes. MoDLE accurately simulates contact maps in concordance with existing molecular dynamics approaches and with Micro-C data, and does so orders of magnitude faster than existing approaches. MoDLE runs efficiently on machines ranging from laptops to high performance computing clusters, and opens up for exploratory and predictive modeling of 3D genome structure in a wide range of settings.

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CompAIRR: ultra-fast comparison of adaptive immune receptor repertoires by exact and approximate sequence matching

Adaptive immune receptor (AIR) repertoires (AIRRs) record past immune encounters with exquisite specificity. Therefore, identifying identical or similar AIR sequences across individuals is a key step in AIRR analysis for revealing convergent immune response patterns that may be exploited for diagnostics and therapy. Existing methods for quantifying AIRR overlap do not scale with increasing dataset numbers and sizes. To address this limitation, we developed CompAIRR, which enables ultra-fast computation of AIRR overlap, based on either exact or approximate sequence matching. CompAIRR improves computational speed 1000-fold relative to the state of the art and uses only one-third of the memory: on the same machine, the exact pairwise AIRR overlap of 104 AIRRs with 105 sequences is found in [~]17 minutes, while the fastest alternative tool requires 10 days. CompAIRR has been integrated with the machine learning ecosystem immuneML to speed up various commonly used AIRR-based machine learning applications. Availability and implementationCompAIRR code and documentation are available at https://github.com/uio-bmi/compairr. Docker images are available at https://hub.docker.com/r/torognes/compairr. The scripts used for benchmarking and creating figures, and all raw data, may be found at https://github.com/uio-bmi/compairr-benchmarking.

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NucMerge: Genome assembly quality improvement assisted by alternative assemblies and paired-end Illumina reads

BackgroundIn spite of the major breakthroughs in the second-generation sequencing technologies and the developments of a plethora of assemblers over the last ten years, the resulting genome assemblies may still be fragmented and contain errors. It is typical in genome projects with second-generation reads involved to run multiple assemblers with different parameters and choose the best assembly. However, such an approach is always a trade-off between the strengths and weaknesses of the assemblies. To exploit the advantages of different assemblers, an alternative approach that combines the best parts of several assemblies into one may be applied. The existing tools based on such an approach assist in elongation of assembly fragments and/or improvement of assembly accuracy. Though there has been progress with such a strategy, there is still room for improvement of the existing tools.\n\nResultsWe present NucMerge, a tool for improving genome assembly accuracy by incorporating information derived from an alternative assembly and paired-end Illumina reads from the same genome. The tool corrects insertion, deletion, substitution, and inversion errors and locates different inter- and intra-chromosomal rearrangement errors. NucMerge was compared to two existing alternatives, namely Metassembler and GAM-NGS.\n\nConclusionsThe benchmarking results show that NucMerge has generally better performance than the other tools tested, providing accuracy improvement of more assemblies. NucMerge is freely available at https://github.com/uio-bmi/NucMerge under the MPL license.

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NucBreak: Location of structural errors in a genome assembly by using paired-end Illumina reads

BackgroundAdvances in whole genome sequencing strategies have provided the opportunity for genomic and comparative genomic analysis of a vast variety of organisms. The analysis results are highly dependent on the quality of the genome assemblies used. Assessment of the assembly accuracy may significantly increase the reliability of the analysis results and is therefore of great importance.\n\nResultsHere, we present a new tool called NucBreak aimed at detecting structural errors in assemblies, including insertions, deletions, duplications, inversions, and different inter-and intra-chromosomal rearrangements. NucBreak analyses the alignments of reads properly mapped to an assembly and exploits information about the alternative read alignments. We have compared NucBreak with other existing assembly accuracy assessment tools, namely Pilon, REAPR, and FRCbam as well as with several structural variant detection tools, including BreakDancer, Lumpy, and Wham, by using both simulated and real datasets.\n\nConclusionsThe benchmarking results have shown that NucBreak in general predicts assembly errors of different types and sizes with relatively high sensitivity and with higher precision than the other tools. Such a balance between sensitivity and precision makes NucBreak a good alternative to the existing assembly accuracy assessment tools and SV detection tools. NucBreak is freely available at https://github.com/uio-bmi/NucBreak under the MPL license.

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