Opis bibliograficzny

INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance. [AUT.] SANTOS JOÃO DOURADO, SOBRAL DANIEL, PINHEIRO MIGUEL, ISIDRO JOANA, BOGAARDT CARLIJN, PINTO MIGUEL, EUSÉBIO RODRIGO, SANTOS ANDRÉ, MAMEDE RAFAEL, HORTON DANIEL L., GOMES JOÃO PAULO, BIGARRÉ LAURENT, FERNÁNDEZ-PINERO JOVITA, PAIS RICARDO J., MARCACCI MAURILIA, MORENO ANA, LILJA TOBIAS, ØINES ØIVIND, RZEŻUTKA ARTUR, MATHIJS ELISABETH, VAN BORM STEVEN, RASMUSSEN MORTEN, SPIESS KATJA, BORGES VÍTOR. Genome Medicine. DOI: 10.1186/s13073-024-01334-3
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Szczegóły publikacji

Źródło:
Rok:2024
Język:angielski
Charakter formalny:Artykuł w czasopismie
Typ MNiSW/MEiN:inne

Streszczenia

Background Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack of bioinformatics tools and/or expertise. In order to face this challenge, we have previously developed INSaFLU, a free web-based bioinformatics platform for virus next-generation sequencing data analysis. Here, we considerably expanded its genomic surveillance component and developed a new module (TELEVIR) for metagenomic virus identification. Results The routine genomic surveillance component was strengthened with new workflows and functionalities, including: i) a reference-based genome assembly pipeline for Oxford Nanopore technologies (ONT) data; ii) automated SARS-CoV-2 lineage classification; iii) Nextclade analysis; iv) Nextstrain phylogeographic and temporal analysis (SARS-CoV-2, seasonal and avian influenza, mpox, respiratory syncytial virus (RSV A/B), as well as a “generic” build for other viruses); and, v) algn2pheno for screening mutations of interest. Both INSaFLU pipelines for reference-based consensus generation (Illumina and ONT) were benchmarked against commonly used command line bioinformatics workflows for SARS-CoV-2, and an INSaFLU snakemake version was released. In parallel, a new module (TELEVIR) for virus detection was developed, after extensive benchmarking of state-of-the-art metagenomics software and following up-to-date recommendations and practices in the field. TELEVIR allows running complex workflows, covering several combinations of steps (e.g., with/without Viral enrichment/Host depletion), classification software (e.g., Kaiju, Kraken2, Centrifuge, FastViromeExplorer) and databases (RefSeq viral genome, Virosaurus, etc), while culminating in user- and diagnosis-oriented reports. Finally, to potentiate real-time virus detection during ONT runs, we developed findONTime, a tool aimed at reducing costs and the time between sample reception and diagnosis. Conclusion The accessibility, versatility and functionality of INSaFLU-TELEVIR is expected to supply public health laboratories and researchers with a user-oriented bioinformatics framework that promotes a strengthened and timely viral metagenomic detection and routine genomics surveillance. INSaFLU-TELEVIR is compatible with Illumina, Ion Torrent and ONT data and is freely available at https://insaflu.insa.pt/ (online tool) and https://github.com/INSaFLU (code).

Open Access

Tryb dostępu:otwarte czasopismoWersja tekstu:ostateczna wersja opublikowanaLicencja: Creative Commons - Uznanie Autorstwa (CC-BY) Czas udostępnienia:w momencie opublikowania

Identyfikatory

ISSN: 1756-994X
BPP ID: (7, 8463) wydawnictwo ciągłe #8463

Metryki

140,00
Punkty MNiSW/MEiN
0
Impact Factor
0
Index Copernicus
0
Punktacja wewnętrzna

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Status:przed korektą
Praca recenzowana:nie
Rekord utworzony:2 kwietnia 2025 01:20
Ostatnia aktualizacja:4 czerwca 2025 13:40