Results 1 to 10 of about 886,727 (315)

Whole genome sequencing in clinical practice

BMC Medical Genomics
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers.
Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen   +6 more
doaj   +2 more sources

Typing methods based on whole genome sequencing data

One Health Outlook, 2020
Whole genome sequencing (WGS) of foodborne pathogens has become an effective method for investigating the information contained in the genome sequence of bacterial pathogens.
Laura Uelze, Josephine Grützke, Maria Borowiak, Jens Andre Hammerl, Katharina Juraschek, Carlus Deneke, Simon H. Tausch, Burkhard Malorny   +7 more
doaj   +2 more sources

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

bioRxiv, 2021
The 1000 Genomes Project (1kGP) is the largest fully open resource of whole genome sequencing (WGS) data consented for public distribution of raw sequence data without access or use restrictions.
M. Byrska-Bishop, U. S. Evani, Xuefang Zhao, A. Basile, H. Abel, Allison A. Regier, A. Corvelo, Wayne E. Clarke, R. Musunuri, Kshithija Nagulapalli, S. Fairley, Alexi Runnels, L. Winterkorn, E. Lowy, Paul Flicek, S. Germer, H. Brand, Ira M. Hall, M. Talkowski, G. Narzisi, M. Zody   +20 more
semanticscholar   +1 more source

SARS-CoV-2 surveillance in Italy through phylogenomic inferences based on Hamming distances derived from pan-SNPs, -MNPs and -InDels

BMC Genomics, 2021
Background Faced with the ongoing global pandemic of coronavirus disease, the ‘National Reference Centre for Whole Genome Sequencing of microbial pathogens: database and bioinformatic analysis’ (GENPAT) formally established at the ‘Istituto ...
Adriano Di Pasquale, Nicolas Radomski, Iolanda Mangone, Paolo Calistri, Alessio Lorusso, Cesare Cammà   +5 more
doaj   +1 more source

Harmonization of supervised machine learning practices for efficient source attribution of Listeria monocytogenes based on genomic data

BMC Genomics, 2023
Background Genomic data-based machine learning tools are promising for real-time surveillance activities performing source attribution of foodborne bacteria such as Listeria monocytogenes.
Pierluigi Castelli, Andrea De Ruvo, Andrea Bucciacchio, Nicola D’Alterio, Cesare Cammà, Adriano Di Pasquale, Nicolas Radomski   +6 more
doaj   +1 more source

Unveiling the immunomodulatory shift: Epithelial-mesenchymal transition Alters immune mechanisms of amniotic epithelial cells

iScience, 2023
Summary: Epithelial-mesenchymal transition (EMT) changes cell phenotype by affecting immune properties of amniotic epithelial cells (AECs). The present study shows how the response to lipopolysaccharide of cells collected pre- (eAECs) and post-EMT (mAECs)
Valeria Di Lollo, Angelo Canciello, Alessia Peserico, Massimiliano Orsini, Valentina Russo, Adrián Cerveró-Varona, Beatrice Dufrusine, Mohammad El Khatib, Valentina Curini, Annunziata Mauro, Paolo Berardinelli, Cathy Tournier, Massimo Ancora, Cesare Cammà, Enrico Dainese, Luana Fiorella Mincarelli, Barbara Barboni   +16 more
doaj   +1 more source

Benchmarking of Nanopore R10.4 and R9.4.1 flow cells in single-cell whole-genome amplification and whole-genome shotgun sequencing.

Computational and Structural Biotechnology Journal, 2023
Third-generation sequencing can be used in human cancer genomics and epigenomic research. Oxford Nanopore Technologies (ONT) recently released R10.4 flow cell, which claimed an improved read accuracy compared to R9.4.1 flow cell. To evaluate the benefits
Y. Ni, Xudong Liu, Zemenu Mengistie Simeneh, Mengsu Yang, Runsheng Li   +4 more
semanticscholar   +1 more source

In vitro and in silico parameters for precise cgMLST typing of Listeria monocytogenes

BMC Genomics, 2022
Background Whole genome sequencing analyzed by core genome multi-locus sequence typing (cgMLST) is widely used in surveillance of the pathogenic bacteria Listeria monocytogenes.
Federica Palma, Iolanda Mangone, Anna Janowicz, Alexandra Moura, Alexandra Chiaverini, Marina Torresi, Giuliano Garofolo, Alexis Criscuolo, Sylvain Brisse, Adriano Di Pasquale, Cesare Cammà, Nicolas Radomski   +11 more
doaj   +1 more source

Whole-genome sequencing of half-a-million UK Biobank participants

medRxiv, 2023
Whole-genome sequencing (WGS) provides a comprehensive view of the genome, enabling detection of coding and non-coding genetic variation, and surveying complex regions which are difficult to genotype. Here, we report on whole-genome sequencing of 490,640
The UK Biobank Whole-Genome Sequencing Consortium, S. Li, K. Carss, B. Halldórsson, A. Cortes   +4 more
semanticscholar   +1 more source

Prevalence and whole genome sequencing analysis of Salmonella isolated from a homebred chicken farm in Jiangsu province. [PDF]

Front Vet Sci
Liu B, Wu S, Huang J, Cui L, Song X, Tang W, Sun S.   +6 more
europepmc   +3 more sources