1,339 results on '"Genomic epidemiology"'
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2. The genomic characteristics of dominant Salmonella enterica serovars from retail pork in Sichuan province, China
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Li, Lanqi, Sun, Honghu, Zhao, Jianyun, Sheng, Huanjing, Li, Menghan, Zhao, Lanxin, Liu, Shiwei, Fanning, Séamus, Wang, Lu, Wang, Yang, Wu, Yongning, Ding, Hao, and Bai, Li
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- 2025
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3. Streptococcus pyogenes bloodstream infections in an Italian hospital: A ten-year genomic picture
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Corbella, Marta, Merla, Cristina, Kuka, Angela, Mileto, Irene, Petazzoni, Greta, Rebuffa, Chiara, Brunco, Vincenzo, Gaiarsa, Stefano, Baldanti, Fausto, and Cambieri, Patrizia
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- 2025
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4. Two multidrug-resistant Proteus mirabilis clones carrying extended spectrum beta-lactamases revealed in a single hospital department by whole genome sequencing
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Karpenko, Anna, Shelenkov, Andrey, Petrova, Lyudmila, Gusarov, Vitaly, Zamyatin, Mikhail, Mikhaylova, Yulia, and Akimkin, Vasiliy
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- 2024
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5. India should invest in the expansion of genomic epidemiology for vector-borne diseases filariasis, malaria and visceral leishmaniasis that are targeted for elimination
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Singh, Nandini and Sharma, Amit
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- 2024
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6. Integrated analyses of the transmission history of SARS-CoV-2 and its association with molecular evolution of the virus underlining the pandemic outbreaks in Italy, 2019-2023
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Cella, Eleonora, Fonseca, Vagner, Branda, Francesco, Tosta, Stephane, Moreno, Keldenn, Schuab, Gabriel, Ali, Sobur, Slavov, Svetoslav Nanev, Scarpa, Fabio, Santos, Luciane Amorim, Kashima, Simone, Wilkinson, Eduan, Tegally, Houriiyah, Mavian, Carla, Borsetti, Alessandra, Caccuri, Francesca, Salemi, Marco, de Oliveira, Tulio, Azarian, Taj, de Filippis, Ana Maria Bispo, Alcantara, Luiz Carlos Junior, Ceccarelli, Giancarlo, Caruso, Arnaldo, Colizzi, Vittorio, Marcello, Alessandro, Lourenço, José, Ciccozzi, Massimo, and Giovanetti, Marta
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- 2024
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7. Emergence of the B.1.214.2 SARS-CoV-2 lineage with an Omicron-like spike insertion and a unique upper airway immune signature.
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Holtz, Andrew, Van Weyenbergh, Johan, Hong, Samuel, Cuypers, Lize, OToole, Áine, Dudas, Gytis, Gerdol, Marco, Potter, Barney, Ntoumi, Francine, Mapanguy, Claujens, Vanmechelen, Bert, Wawina-Bokalanga, Tony, Van Holm, Bram, Menezes, Soraya, Soubotko, Katja, Van Pottelbergh, Gijs, Wollants, Elke, Vermeersch, Pieter, Jacob, Ann-Sophie, Maes, Brigitte, Obbels, Dagmar, Matheeussen, Veerle, Martens, Geert, Gras, Jérémie, Verhasselt, Bruno, Laffut, Wim, Vael, Carl, Goegebuer, Truus, van der Kant, Rob, Rousseau, Frederic, Schymkowitz, Joost, Serrano, Luis, Delgado, Javier, Wenseleers, Tom, Bours, Vincent, André, Emmanuel, Suchard, Marc, Rambaut, Andrew, Dellicour, Simon, Maes, Piet, Durkin, Keith, and Baele, Guy
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COVID-19 ,Disease spread ,Genomic epidemiology ,Phylodynamics ,Phylogeography ,SARS-CoV-2 ,Humans ,SARS-CoV-2 ,COVID-19 ,Spike Glycoprotein ,Coronavirus ,Aged ,Male ,Travel ,Belgium ,Middle Aged ,Female ,Adult ,Phylogeography ,Nasopharynx - Abstract
We investigate the emergence, mutation profile, and dissemination of SARS-CoV-2 lineage B.1.214.2, first identified in Belgium in January 2021. This variant, featuring a 3-amino acid insertion in the spike protein similar to the Omicron variant, was speculated to enhance transmissibility or immune evasion. Initially detected in international travelers, it substantially transmitted in Central Africa, Belgium, Switzerland, and France, peaking in April 2021. Our travel-aware phylogeographic analysis, incorporating travel history, estimated the origin to the Republic of the Congo, with primary European entry through France and Belgium, and multiple smaller introductions during the epidemic. We correlate its spread with human travel patterns and air passenger data. Further, upon reviewing national reports of SARS-CoV-2 outbreaks in Belgian nursing homes, we found this strain caused moderately severe outcomes (8.7% case fatality ratio). A distinct nasopharyngeal immune response was observed in elderly patients, characterized by 80% unique signatures, higher B- and T-cell activation, increased type I IFN signaling, and reduced NK, Th17, and complement system activation, compared to similar outbreaks. This unique immune response may explain the variants epidemiological behavior and underscores the need for nasal vaccine strategies against emerging variants.
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- 2024
8. Interplay of multiple carbapenemases and tigecycline resistance in Acinetobacter species: a serious combined threat
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Li, Xinyang, Zhuang, Yilu, Yu, Yawen, Jia, Huiqiong, Kong, Yingying, Zhang, Jun, Xie, Xinyou, Stehling, Eliana Guedes, Furlan, João Pedro Rueda, Zhou, Zhemin, and Ruan, Zhi
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- 2025
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9. Elucidating the role of internal migration in the spread of Mycobacterium tuberculosis
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Da Silva, Kesia Esther and Andrews, Jason R.
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- 2025
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10. Zoonotic tuberculosis in Catalonia, Spain: Phylogenetic insights into Mycobacterium bovis and M. caprae transmission at the human-livestock interface
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Pérez de Val, Bernat, Vidal, Enric, Stuber, Tod, Sáez, Jose Luís, and Tórtola, María Teresa
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- 2025
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11. Genomic Epidemiology of Mycobacterium abscessus on the Island of Montréal Is Not Suggestive of Health Care-Associated Person-to-Person Transmission.
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Olawoye, Idowu B, Waglechner, Nicholas, McIntosh, Fiona, Akochy, Pierre-Marie, Cloutier, Nancy, Lapierre, Simon Grandjean, Tannir, Bouchra, Greenaway, Christina, Matouk, Elias, Poirier, Louise, Levesque, Roger C, Boyle, Brian, Quach, Caroline, Soualhine, Hafid, Batt, Jane, Behr, Marcel A, Lee, Robyn S, and Guthrie, Jennifer L
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HEALTH facilities , *EPIDEMIOLOGY , *WHOLE genome sequencing , *PAN-genome , *GENOMICS - Abstract
Background Mycobacterium abscessus complex (MABC), an opportunistic nontuberculous mycobacteria, can lead to poor clinical outcomes in pulmonary infections. Conflicting data exist on person-to-person transmission of MABC within and across health care facilities. To investigate further, a comprehensive retrospective study across 5 health care institutions on the Island of Montréal was undertaken. Methods We analyzed the genomes of 221 MABC isolates obtained from 115 individuals (2010–2018) to identify possible links. Genetic similarity, defined as ≤25 single-nucleotide polymorphisms (SNPs), was investigated through a blinded epidemiological inquiry. Results Bioinformatics analyses identified 28 sequence types, including globally observed dominant circulating clones (DCCs). Further analysis revealed 210 isolate pairs within the SNP threshold. Among these pairs, there was 1 possible laboratory contamination where isolates from different patients processed in the same laboratory differed by only 2 SNPs. There were 37 isolate pairs from patients who had provided specimens from the same hospital; however, epidemiological analysis found no evidence of health care-associated person-to-person transmission between these patients. Additionally, pangenome analysis showed higher discriminatory power than core genome analysis for examining genomic similarity. Conclusions Genomics alone is insufficient to establish MABC transmission, particularly considering the genetic similarity and wide distribution of DCCs, although pangenome analysis has the potential to add further insight. Our findings indicate that MABC infections in Montréal are unlikely attributable to health care-associated person-to-person transmission. [ABSTRACT FROM AUTHOR]
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- 2025
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12. Genomic Epidemiology of Pseudomonas aeruginosa Sequence Type 111.
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Matsumara, Yasufumi, Peirano, Gisele, Kock, Marleen, and Pitout, Johann D. D.
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MOLECULAR epidemiology , *PSEUDOMONAS aeruginosa , *MOLECULAR cloning , *EPIDEMIOLOGY , *COLLECTIONS - Abstract
Purpose: Pseudomonas aeruginosa ST111 is a global multidrug resistant (MDR) high-risk clone and comprehensive data about its molecular epidemiology is limited in Canada. Comprehensive data about the evolution of ST111 clades is limited. We characterized a Canadian collection of ST111 causing bloodstream infections and investigated the genomic relationship between Canadian and global ST111. Material and methods: We used long and short read WGS to characterize Canadian ST111 (n = 10 from 2010–18). We performed phylogenetic analysis on a global collection of ST111 (n = 969) and investigated the evolutionary history of clades using BEAST. Results: ST111 belonged to 3 clades (A, B, C) and two subclades (C1, C2). ST111-A was the ancestral clade while clades B, C1 and C2 emerged during the 1700s and 1800s. ST111-C2 dominated the global ST111 population. Serotype switching from O4 to O12 and the acquisition of Tn21, gyrA_T83I, parC_S87L, In59 with blaVIM-2 and aacA29 over time, were important in the evolution of ST111-C2. The Calgary ST111 strains consisted of a diverse collection that belonged to ST111-A (O4), ST111-C1 (O4) and ST111-C2 (O12) with different transposon structures. Conclusions: We provided details on the emergence and evolution of different ST111 clades over time and highlighted the roles of serotype switching and the acquisition of certain AMR determinants and transposon structures in the evolution of ST111-C2. [ABSTRACT FROM AUTHOR]
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- 2025
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13. Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone.
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Jiang, Jianping, Cienfuegos-Galletd, Astrid V., Long, Tengfei, Peirano, Gisele, Chu, Tingyu, Pitout, Johann D. D., Kreiswirth, Barry N., and Chen, Liang
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MOBILE genetic elements , *CRISPRS , *MULTIDRUG resistance , *KLEBSIELLA pneumoniae , *MOLECULAR epidemiology - Abstract
Background: Klebsiella pneumoniae is one of the most prevalent pathogens responsible for multiple infections in healthcare settings and the community. K. pneumoniae CG147, primarily including ST147 (the founder ST), ST273, and ST392, is one of the most globally successful MDR clone linked to various carbapenemases. Methods: One hundred and one CG147 strains were sequenced and additional 911 publicly available CG147 genome sequences were included for analysis. The molecular epidemiology, population structure, and time phylogeny were investigated. The virulome, resistome, and mobilome were analyzed, and the recombination in the capsular region was studied. The CRISPR-Cas and anti-CRISPR were identified. The interplay between CRISPR-Cas, anti-CRISPR, and carbapenemase-encoding plasmids was analyzed and experimentally validated. Results: We analyzed 1012 global CG147 genomes, with 80.4% encoding at least one carbapenemase (NDM [529/1012, 52.3%], OXA-48-like [182/1012, 17.7%], and KPC [105/1012, 10.4%]). Surprisingly, almost all CG147 strains (99.7%, 1009/1,012) harbor a chromosomal type I-E CRISPR-Cas system, with 41.8% (423/1012) containing an additional plasmid-borne type IV-A3 CRISPR-Cas system, and both target IncF plasmids, e.g., the most prevalent KPC-encoding pKpQIL-like plasmids. We found the presence of IV-A3 CRISPR-Cas system showed a negative correlation with the presence of KPC. Interestingly, a prophage-encoding anti-CRISPR AcrIE8.1 and a plasmid-borne anti-CRISPR AcrIE9.2 were detected in 40.1% (406/1012) and 54.2% (548/1012) of strains, respectively, which displayed positive correlations with the presence of a carbapenemase. Plasmid transfer experiments confirmed that the I-E and IV-A3 CRISPR-Cas systems significantly decreased (p < 0.001) KPC-encoding pKpQIL plasmid conjugation frequencies, while the AcrIE8.1 and AcrIE9.2 significantly increased (p < 0.001) pKpQIL conjugation frequencies and protected plasmids from elimination by CRISPR-Cas I-E system. Conclusions: Our results indicated a complex interplay between CRISPR-Cas, anti-CRISPR, and mobile genetic elements that shape the evolution of CG147. Our findings advance the understanding of multi-drug resistance mechanisms and will aid in preventing the emergence of future MDR clones. [ABSTRACT FROM AUTHOR]
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- 2025
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14. A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission.
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Sobkowiak, Benjamin, Cudahy, Patrick, Chitwood, Melanie H., Clark, Taane G., Colijn, Caroline, Grandjean, Louis, Walter, Katharine S., Crudu, Valeriu, and Cohen, Ted
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MIXED infections , *WHOLE genome sequencing , *MYCOBACTERIUM tuberculosis , *GAUSSIAN mixture models , *MYCOBACTERIAL diseases - Abstract
Background: Mixed infection with multiple strains of the same pathogen in a single host can present clinical and analytical challenges. Whole genome sequence (WGS) data can identify signals of multiple strains in samples, though the precision of previous methods can be improved. Here, we present MixInfect2, a new tool to accurately detect mixed samples from Mycobacterium tuberculosis short-read WGS data. We then evaluate three approaches for reconstructing the underlying mixed constituent strain sequences. This allows these samples to be included in downstream analysis to gain insights into the epidemiology and transmission of mixed infections. Methods: We employed a Gaussian mixture model to cluster allele frequencies at mixed sites (hSNPs) in each sample to identify signals of multiple strains. Building upon our previous tool, MixInfect, we increased the accuracy of classifying in vitro mixed samples through multiple improvements to the bioinformatic pipeline. Major and minor proportion constituent strains were reconstructed using three approaches and assessed by comparing the estimated sequence to the known constituent strain sequence. Lastly, mixed infections in a real-world Mycobacterium tuberculosis population from Moldova were detected with MixInfect2 and clusters of recent transmission that included major and minor constituent strains were built. Results: All 36/36 in vitro mixed and 12/12 non-mixed samples were correctly classified with MixInfect2, and major strain proportions were estimated with high accuracy (within 3% of the true strain proportion), outperforming previous tools. Reconstructed major strain sequences closely matched the true constituent sequence by taking the allele at the highest frequency at hSNPs, while the best-performing approach to reconstruct the minor proportion strain sequence was identifying the closest non-mixed isolate in the same population, though no approach was effective when the minor strain proportion was at 5%. Finally, fewer mixed infections were identified in Moldova than previous estimates (6.6% vs 17.4%) and we found multiple instances where the constituent strains of mixed samples were present in transmission clusters. Conclusions: MixInfect2 accurately detects samples with evidence of mixed infection from short-read WGS data and provides an excellent estimate of the mixture proportions. While there are limitations in reconstructing the constituent strain sequences of mixed samples, we present recommendations for the best approach to include these isolates in further analyses. [ABSTRACT FROM AUTHOR]
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- 2025
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15. Genomic Epidemiology and Evolution of Rhinovirus in Western Washington State, 2021–2022.
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Goya, Stephanie, Wendm, Seffir T, Xie, Hong, Nguyen, Tien V, Barnes, Sarina, Shankar, Rohit R, Sereewit, Jaydee, Cruz, Kurtis, Pérez-Osorio, Ailyn C, Mills, Margaret G, and Greninger, Alexander L
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UNCERTAINTY (Information theory) , *RESPIRATORY syncytial virus , *COMMON cold , *VIRAL load , *COVID-19 pandemic - Abstract
Background Human rhinoviruses (RVs) primarily cause the common cold, but infection outcomes vary from subclinical to severe cases, including asthma exacerbations and fatal pneumonia in individuals who are immunocompromised. To date, therapeutic strategies have been hindered by the high diversity of serotypes. Global surveillance efforts have traditionally focused on sequencing VP1 or VP2/VP4 genetic regions, leaving gaps in our understanding of RV genomic diversity. Methods We sequenced 1078 RV genomes from nasal swabs of symptomatic and asymptomatic individuals to explore viral evolution during 2 epidemiologically distinct periods in Washington State: when the COVID-19 pandemic affected the circulation of other seasonal respiratory viruses except for RV (February–July 2021) and when the seasonal viruses reemerged with the severe outbreak of respiratory syncytial virus and influenza (November–December 2022). We constructed maximum likelihood and BEAST phylodynamic trees to characterize intragenotype evolution. Results We detected 99 of 168 known genotypes and observed intergenotypic recombination and genotype cluster swapping from 2021 to 2022. We found a significant association between the presence of symptoms and viral load but not with RV species or genotype. Phylodynamic trees, polyprotein selection pressure, and Shannon entropy revealed cocirculation of divergent clades within genotypes with high amino acid constraints throughout the polyprotein. Conclusions Our study underscores the dynamic nature of RV genomic epidemiology within a localized geographic region, as >20% of existing genotypes within each RV species cocirculated each studied month. Our findings also emphasize the importance of investigating correlations between RV genotypes and serotypes to understand long-term immunity and cross-protection. [ABSTRACT FROM AUTHOR]
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- 2025
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16. Genomic typing, antimicrobial resistance gene, virulence factor and plasmid replicon database for the important pathogenic bacteria Klebsiella pneumoniae
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Andrey Shelenkov, Anna Slavokhotova, Yulia Mikhaylova, and Vasiliy Akimkin
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Klebsiella pneumoniae ,Healthcare-associated infections ,Genomic epidemiology ,Whole genome sequencing ,CgMLST ,Global clones ,Microbiology ,QR1-502 - Abstract
Abstract Background The infections of bacterial origin represent a significant problem to the public healthcare worldwide both in clinical and community settings. Recent decade was marked by limiting treatment options for bacterial infections due to growing antimicrobial resistance (AMR) acquired and transferred by various bacterial species, especially the ones causing healthcare-associated infections, which has become a dangerous issue noticed by the World Health Organization. Numerous reports shown that the spread of AMR is often driven by several species-specific lineages usually called the ‘global clones of high risk’. Thus, it is essential to track the isolates belonging to such clones and investigate the mechanisms of their pathogenicity and AMR acquisition. Currently, the whole genome-based analysis is more and more often used for these purposes, including the epidemiological surveillance and analysis of mobile elements involved in resistance transfer. However, in spite of the exponential growth of available bacterial genomes, their representation usually lack uniformity and availability of supporting metadata, which creates a bottleneck for such investigations. Description In this database, we provide the results of a thorough genomic analysis of 61,857 genomes of a highly dangerous bacterial pathogen Klebsiella pneumoniae. Important isolate typing information including multilocus sequence typing (MLST) types (STs), assignment of the isolates to known global clones, capsular (KL) and lipooligosaccharide (O) types, the presence of CRISPR-Cas systems, and cgMLST profiles are given, and the information regarding the presence of AMR, virulence genes and plasmid replicons within the genomes is provided. Conclusion This database is freely available under CC BY-NC-SA at https://doi.org/10.5281/zenodo.11069018 . The database will facilitate selection of the proper reference isolate sets for any types of genome-based investigations. It will be helpful for investigations in the field of K. pneumoniae genomic epidemiology, as well as antimicrobial resistance analysis and the development of prevention measures against this important pathogen.
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- 2025
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17. Application of phylodynamics to identify spread of antimicrobial-resistant Escherichia coli between humans and canines in an urban environment
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Walas, Nikolina, Müller, Nicola F, Parker, Emily, Henderson, Abigail, Capone, Drew, Brown, Joe, Barker, Troy, and Graham, Jay P
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Medical Microbiology ,Biomedical and Clinical Sciences ,Antimicrobial Resistance ,Prevention ,Genetics ,Vaccine Related ,Emerging Infectious Diseases ,Biodefense ,2.2 Factors relating to the physical environment ,Aetiology ,Infection ,Animals ,Humans ,Dogs ,Escherichia coli ,Escherichia coli Infections ,Bayes Theorem ,Anti-Bacterial Agents ,Anti-Infective Agents ,Drug Resistance ,Bacterial ,Antimicrobial resistance ,Canines ,ESBL ,Environment ,Genomic epidemiology ,Phylodynamics ,Environmental Sciences - Abstract
The transmission of antimicrobial resistant bacteria in the urban environment is poorly understood. We utilized genomic sequencing and phylogenetics to characterize the transmission dynamics of antimicrobial resistant Escherichia coli (AMR-Ec) cultured from putative canine (caninep) and human feces present on urban sidewalks in San Francisco, California. We isolated a total of fifty-six AMR-Ec isolates from human (n = 20) and caninep (n = 36) fecal samples from the Tenderloin and South of Market (SoMa) neighborhoods of San Francisco. We then analyzed phenotypic and genotypic antimicrobial resistance (AMR) of the isolates, as well as clonal relationships based on cgMLST and single nucleotide polymorphisms (SNPs) of the core genomes. Using Bayesian inference, we reconstructed the transmission dynamics between humans and caninesp from multiple local outbreak clusters using the marginal structured coalescent approximation (MASCOT). Our results provide evidence for multiple sharing events of AMR-Ec between humans and caninesp. In particular, we found one instance of likely transmission from caninesp to humans as well as an additional local outbreak cluster consisting of one caninep and one human sample. Based on this analysis, it appears that non-human feces act as an important reservoir of clinically relevant AMR-Ec within the urban environment for this study population. This work showcases the utility of genomic epidemiology to reconstruct potential pathways by which antimicrobial resistance spreads.
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- 2024
18. Mortality and genetic diversity of antibiotic-resistant bacteria associated with bloodstream infections: a systemic review and genomic analysis
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Haitao Zhao, Mengyue Liu, Jie Wu, Shuaiyin Chen, Haiyan Yang, Jinzhao Long, and Guangcai Duan
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Bloodstream infections ,Bacterial resistance ,Mortality ,Genomic epidemiology ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Bloodstream infections (BSIs) caused by antibiotic-resistant bacteria (ARB) represent a significant disease burden worldwide. However, a comprehensive analysis of the mortality rates and global epidemiology across different ARB species associated with BSIs is currently lacking. Methods We conducted a systematic review by searching multiple databases (PubMed, Web of Science, and Embase) for studies reporting ARB-related BSIs data up to June 19, 2023. Additionally, we performed genomic analyses of all the publicly available bacterial genomes associated with BSIs to elucidate their molecular characteristics. Results A total of 322 articles (N = 90,672 patients) were included in this study. For 28 or 30-day mortality, the overall mortality rate for all ARB species was 32.0%. Among them, antibiotic-resistant A. baumannii exhibited the highest rate (54.2%). And the top three ARB types with the highest mortality rates at 28 or 30-day were CefeR-PA (cefepime-resistant P. aeruginosa), CREC (carbapenem-resistant E. coli), and CRAB (carbapenem-resistant A. baumannii), all exceeding 50%, whereas the mortality rates of CRKP (carbapenem-resistant K. pneumoniae), CRPA (carbapenem-resistant P. aeruginosa), and VREfm (vancomycin-resistant E. faecium) were at least 40%. A total of 9,289 ARB genomes related to BSIs were acquired from the NPDIB database and are predominantly distributed in North America, Asia, and Europe. Antibiotic resistance gene (ARG) analysis identified a total of 613 ARG subtypes from the top six ARB species, with numbers ranging from 48 for E. faecium to 253 for K. pneumoniae. Furthermore, specific clones of ARB species were strongly associated with BSIs, such as ST131 in E. coli, ST8, and ST5 in S. aureus, ST2 in A. baumannii, and ST11 and ST258 in K. pneumoniae. Conclusion ARB contributed to the burden of BSIs, with a 30-day all-cause mortality rate as high as 32.0%. ARB strains causing BSIs display high genetic diversity, highlighting the importance of continuing to monitor high-risk clones to control the development of antibiotic resistance. Differences in ARGs patterns require tailored antibiotic management strategies for each ARB species.
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- 2024
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19. Understanding the biological processes of kidney carcinogenesis: an integrative multi-omics approach
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Ricardo Cortez Cardoso Penha, Alexandra Sexton Oates, Sergey Senkin, Hanla A Park, Joshua Atkins, Ivana Holcatova, Anna Hornakova, Slavisa Savic, Simona Ognjanovic, Beata Świątkowska, Jolanta Lissowska, David Zaridze, Anush Mukeria, Vladimir Janout, Amelie Chabrier, Vincent Cahais, Cyrille Cuenin, Ghislaine Scelo, Matthieu Foll, Zdenko Herceg, Paul Brennan, Karl Smith-Byrne, Nicolas Alcala, and James D Mckay
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Integrative Multi-omics Analysis ,Kidney Cancer ,Genomic Epidemiology ,Cancer Biology ,Tumour Microenvironment ,Biology (General) ,QH301-705.5 ,Medicine (General) ,R5-920 - Abstract
Abstract Biological mechanisms related to cancer development can leave distinct molecular fingerprints in tumours. By leveraging multi-omics and epidemiological information, we can unveil relationships between carcinogenesis processes that would otherwise remain hidden. Our integrative analysis of DNA methylome, transcriptome, and somatic mutation profiles of kidney tumours linked ageing, epithelial–mesenchymal transition (EMT), and xenobiotic metabolism to kidney carcinogenesis. Ageing process was represented by associations with cellular mitotic clocks such as epiTOC2, SBS1, telomere length, and PBRM1 and SETD2 mutations, which ticked faster as tumours progressed. We identified a relationship between BAP1 driver mutations and the epigenetic upregulation of EMT genes (IL20RB and WT1), correlating with increased tumour immune infiltration, advanced stage, and poorer patient survival. We also observed an interaction between epigenetic silencing of the xenobiotic metabolism gene GSTP1 and tobacco use, suggesting a link to genotoxic effects and impaired xenobiotic metabolism. Our pan-cancer analysis showed these relationships in other tumour types. Our study enhances the understanding of kidney carcinogenesis and its relation to risk factors and progression, with implications for other tumour types.
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- 2024
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20. Genomic epidemiology of early SARS-CoV-2 transmission dynamics in Bangladesh
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L. Carnegie, J. T. McCrone, L. du Plessis, M. Hasan, M.Z. Ali, R. Begum, M.Z. Hassan, S. Islam, M.H. Rahman, A.S.M. Uddin, M.S. Sarker, T. Das, M. Hossain, M. Khan, M.H. Razu, A. Akram, S. Arina, E. Hoque, M.M.A. Molla, T. Nafisaa, P. Angra, A. Rambaut, S.T. Pullan, K.L. Osman, M.A. Hoque, P. Biswas, M.S. Flora, J. Raghwani, G. Fournié, M.A. Samad, and S.C. Hill
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SARS-CoV-2 ,Phylodynamics ,Bangladesh ,Genomic epidemiology ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Genomic epidemiology has helped reconstruct the global and regional movement of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). However, there is still a lack of understanding of SARS-CoV-2 spread in some of the world’s least developed countries (LDCs). Methods To begin to address this disparity, we studied the transmission dynamics of the virus in Bangladesh during the country’s first COVID-19 wave by analysing case reports and whole-genome sequences from all eight divisions of the country. Results We detected > 50 virus introductions to the country during the period, including during a period of national lockdown. Additionally, through discrete phylogeographic analyses, we identified that geographical distance and population -density and/or -size influenced virus spatial dispersal in Bangladesh. Conclusions Overall, this study expands our knowledge of SARS-CoV-2 genomic epidemiology in Bangladesh, shedding light on crucial transmission characteristics within the country, while also acknowledging resemblances and differences to patterns observed in other nations.
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- 2024
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21. Genomic Epidemiology of Human Respiratory Syncytial Virus, Minnesota, USA, July 2023–February 2024
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Daniel Evans, Henry Kunerth, Erica Mumm, Sarah Namugenyi, Matthew Plumb, Sarah Bistodeau, Scott A. Cunningham, Bryan Schmitt, Karen Martin, Katherine Como-Sabetti, Ruth Lynfield, and Xiong Wang
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Respiratory syncytial virus ,genomic epidemiology ,viral surveillance ,Minnesota ,viruses ,respiratory infections ,Medicine ,Infectious and parasitic diseases ,RC109-216 - Abstract
We recently expanded the viral genomic surveillance program in Minnesota, USA, to include human respiratory syncytial virus. We performed whole-genome sequencing of 575 specimens collected at Minnesota healthcare facilities during July 2023–February 2024. Subgroups A and B differed in their genomic landscapes, and we identified 23 clusters of genetically identical genomes.
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- 2024
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22. Emergence of the B.1.214.2 SARS-CoV-2 lineage with an Omicron-like spike insertion and a unique upper airway immune signature
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Andrew Holtz, Johan Van Weyenbergh, Samuel L. Hong, Lize Cuypers, Áine O’Toole, Gytis Dudas, Marco Gerdol, Barney I. Potter, Francine Ntoumi, Claujens Chastel Mfoutou Mapanguy, Bert Vanmechelen, Tony Wawina-Bokalanga, Bram Van Holm, Soraya Maria Menezes, Katja Soubotko, Gijs Van Pottelbergh, Elke Wollants, Pieter Vermeersch, Ann-Sophie Jacob, Brigitte Maes, Dagmar Obbels, Veerle Matheeussen, Geert Martens, Jérémie Gras, Bruno Verhasselt, Wim Laffut, Carl Vael, Truus Goegebuer, Rob van der Kant, Frederic Rousseau, Joost Schymkowitz, Luis Serrano, Javier Delgado, Tom Wenseleers, Vincent Bours, Emmanuel André, Marc A. Suchard, Andrew Rambaut, Simon Dellicour, Piet Maes, Keith Durkin, and Guy Baele
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SARS-CoV-2 ,Genomic epidemiology ,Phylogeography ,Phylodynamics ,Disease spread ,COVID-19 ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract We investigate the emergence, mutation profile, and dissemination of SARS-CoV-2 lineage B.1.214.2, first identified in Belgium in January 2021. This variant, featuring a 3-amino acid insertion in the spike protein similar to the Omicron variant, was speculated to enhance transmissibility or immune evasion. Initially detected in international travelers, it substantially transmitted in Central Africa, Belgium, Switzerland, and France, peaking in April 2021. Our travel-aware phylogeographic analysis, incorporating travel history, estimated the origin to the Republic of the Congo, with primary European entry through France and Belgium, and multiple smaller introductions during the epidemic. We correlate its spread with human travel patterns and air passenger data. Further, upon reviewing national reports of SARS-CoV-2 outbreaks in Belgian nursing homes, we found this strain caused moderately severe outcomes (8.7% case fatality ratio). A distinct nasopharyngeal immune response was observed in elderly patients, characterized by 80% unique signatures, higher B- and T-cell activation, increased type I IFN signaling, and reduced NK, Th17, and complement system activation, compared to similar outbreaks. This unique immune response may explain the variant's epidemiological behavior and underscores the need for nasal vaccine strategies against emerging variants.
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- 2024
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23. Mortality and genetic diversity of antibiotic-resistant bacteria associated with bloodstream infections: a systemic review and genomic analysis.
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Zhao, Haitao, Liu, Mengyue, Wu, Jie, Chen, Shuaiyin, Yang, Haiyan, Long, Jinzhao, and Duan, Guangcai
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MEDICAL sciences ,GENETIC variation ,ESCHERICHIA coli ,MEDICAL microbiology ,DRUG resistance in bacteria ,KLEBSIELLA pneumoniae ,ACINETOBACTER baumannii - Abstract
Background: Bloodstream infections (BSIs) caused by antibiotic-resistant bacteria (ARB) represent a significant disease burden worldwide. However, a comprehensive analysis of the mortality rates and global epidemiology across different ARB species associated with BSIs is currently lacking. Methods: We conducted a systematic review by searching multiple databases (PubMed, Web of Science, and Embase) for studies reporting ARB-related BSIs data up to June 19, 2023. Additionally, we performed genomic analyses of all the publicly available bacterial genomes associated with BSIs to elucidate their molecular characteristics. Results: A total of 322 articles (N = 90,672 patients) were included in this study. For 28 or 30-day mortality, the overall mortality rate for all ARB species was 32.0%. Among them, antibiotic-resistant A. baumannii exhibited the highest rate (54.2%). And the top three ARB types with the highest mortality rates at 28 or 30-day were CefeR-PA (cefepime-resistant P. aeruginosa), CREC (carbapenem-resistant E. coli), and CRAB (carbapenem-resistant A. baumannii), all exceeding 50%, whereas the mortality rates of CRKP (carbapenem-resistant K. pneumoniae), CRPA (carbapenem-resistant P. aeruginosa), and VREfm (vancomycin-resistant E. faecium) were at least 40%. A total of 9,289 ARB genomes related to BSIs were acquired from the NPDIB database and are predominantly distributed in North America, Asia, and Europe. Antibiotic resistance gene (ARG) analysis identified a total of 613 ARG subtypes from the top six ARB species, with numbers ranging from 48 for E. faecium to 253 for K. pneumoniae. Furthermore, specific clones of ARB species were strongly associated with BSIs, such as ST131 in E. coli, ST8, and ST5 in S. aureus, ST2 in A. baumannii, and ST11 and ST258 in K. pneumoniae. Conclusion: ARB contributed to the burden of BSIs, with a 30-day all-cause mortality rate as high as 32.0%. ARB strains causing BSIs display high genetic diversity, highlighting the importance of continuing to monitor high-risk clones to control the development of antibiotic resistance. Differences in ARGs patterns require tailored antibiotic management strategies for each ARB species. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Understanding the biological processes of kidney carcinogenesis: an integrative multi-omics approach.
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Cortez Cardoso Penha, Ricardo, Sexton Oates, Alexandra, Senkin, Sergey, Park, Hanla A, Atkins, Joshua, Holcatova, Ivana, Hornakova, Anna, Savic, Slavisa, Ognjanovic, Simona, Świątkowska, Beata, Lissowska, Jolanta, Zaridze, David, Mukeria, Anush, Janout, Vladimir, Chabrier, Amelie, Cahais, Vincent, Cuenin, Cyrille, Scelo, Ghislaine, Foll, Matthieu, and Herceg, Zdenko
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DNA analysis ,RENAL cell carcinoma ,DNA fingerprinting ,CELLULAR aging ,SOMATIC mutation ,TELOMERES - Abstract
Biological mechanisms related to cancer development can leave distinct molecular fingerprints in tumours. By leveraging multi-omics and epidemiological information, we can unveil relationships between carcinogenesis processes that would otherwise remain hidden. Our integrative analysis of DNA methylome, transcriptome, and somatic mutation profiles of kidney tumours linked ageing, epithelial–mesenchymal transition (EMT), and xenobiotic metabolism to kidney carcinogenesis. Ageing process was represented by associations with cellular mitotic clocks such as epiTOC2, SBS1, telomere length, and PBRM1 and SETD2 mutations, which ticked faster as tumours progressed. We identified a relationship between BAP1 driver mutations and the epigenetic upregulation of EMT genes (IL20RB and WT1), correlating with increased tumour immune infiltration, advanced stage, and poorer patient survival. We also observed an interaction between epigenetic silencing of the xenobiotic metabolism gene GSTP1 and tobacco use, suggesting a link to genotoxic effects and impaired xenobiotic metabolism. Our pan-cancer analysis showed these relationships in other tumour types. Our study enhances the understanding of kidney carcinogenesis and its relation to risk factors and progression, with implications for other tumour types. Synopsis: Integrative analysis of multi-omics and epidemiological data implicated ageing, epithelial-mesenchymal transition (EMT), and xenobiotic metabolism as biological mechanisms driving clear cell renal cell carcinoma (ccRCC). Cellular mitotic ageing is a major source of variance between ccRCC tumours, with faster ticking mitotic clocks (epiTOC2, SBS1, and telomere length), genomic instability and PBRM1 and SETD2 mutations related to tumour progression. There is a relationship between BAP1 driver mutations, the epigenetic activation of EMT related genes (IL20RB and WT1), tumour immune infiltration, and worse survival outcomes. Epigenetic silencing of GSTP1, especially in smokers, points to impaired xenobiotic metabolism and increased genotoxic risk in ccRCC tumours. These biological mechanisms were also observed across other cancer types, highlighting broader implications for tumour progression. Integrative analysis of multi-omics and epidemiological data implicated ageing, epithelial-mesenchymal transition (EMT), and xenobiotic metabolism as biological mechanisms driving clear cell renal cell carcinoma (ccRCC). [ABSTRACT FROM AUTHOR]
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- 2024
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25. Association between genetic clades and cancer prevalence suggested by French-wide study of oncogenic small ruminant β-retrovirus diversity.
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Riocreux-Verney, Benjamin, Verneret, Marie, Diesler, Rémi, Dolmazon, Christine, Gineys, Barbara, Cadoré, Jean-Luc, Turpin, Jocelyn, and Leroux, Caroline
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ONCOGENIC viruses ,NASAL tumors ,SHEEP ,RUMINANTS ,RETROVIRUSES - Abstract
Introduction: ENTV (Enzootic Nasal Tumor Virus) and JSRV (Jaagsiekte Sheep Retrovirus) are β-retroviruses responsible for respiratory cancers in sheep and goats. In this study, we analyzed the genetic features of the sheep and goat β-Retroviruses (29 JSRV and 24 ENTV strains) circulating in France to identify molecular signatures associated with disease severity in flocks. Methods: We developed a highly specific PCR to amplify and sequence exogenous targeted regions or near full length proviruses based on limited discriminating motifs along their genomes. Results: The phylogenetic reconstructions based on the Long Terminal Repeat (LTR) and env regions suggest that one major strain is circulating on the French territory for ENTV-1 and ENTV-2 while not clustering with already published Spanish, Canadian or Chinese strains. JSRV strains circulating in French sheep flocks were distributed in 2 distinct genetic clades clustering with sequences originating from North America, Africa and United-Kingdom. JSRV clade I was found to be associated with a higher incidence of cancer in French flocks. Specific motifs spanning the entire JSRV genome particularly in the LTRs and in the intracytoplasmic domain of the envelope were detected between the two genetic subtypes. Discussion: This work represents the first nationwide study describing the circulation of the three closely related β-oncogenic retroviruses JSRV, ENTV-1 and ENTV-2 in French sheep and goat flocks. Better characterization of strain genetics is a critical step in monitoring circulating - retroviruses, especially those associated with higher cancer incidence in small ruminants. [ABSTRACT FROM AUTHOR]
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- 2024
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26. Genomic epidemiology and evolutionary dynamics of the Omicron variant of SARS-CoV-2 during the fifth wave of COVID-19 in Pakistan.
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Razzaq, Aroona, Disoma, Cyrollah, Iqbal, Sonia, Nisar, Ayesha, Hameed, Muddassar, Qadeer, Abdul, Waqar, Muhammad, Mehmood, Sardar Azhar, Gao, Lidong, Khan, Sawar, and Xia, Zanxian
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SARS-CoV-2 ,SARS-CoV-2 Omicron variant ,COVID-19 ,PANDEMIC preparedness ,COVID-19 pandemic - Abstract
Introduction: The coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has posed extraordinary challenges to global health systems and economies. The virus's rapid evolution has resulted in several variants of concern (VOCs), including the highly transmissible Omicron variant, characterized by extensive mutations. In this study, we investigated the genetic diversity, population differentiation, and evolutionary dynamics of the Omicron VOC during the fifth wave of COVID-19 in Pakistan. Methods: A total of 954 Omicron genomes sequenced during the fifth wave of COVID-19 in Pakistan were analyzed. A Bayesian framework was employed for phylogenetic reconstructions, molecular dating, and population dynamics analysis. Results: Using a population genomics approach, we analyzed Pakistani Omicron samples, revealing low within-population genetic diversity and significant structural variation in the spike (S) protein. Phylogenetic analysis showed that the Omicron variant in Pakistan originated from two distinct lineages, BA.1 and BA.2, which were introduced from South Africa, Thailand, Spain, and Belgium. Omicron-specific mutations, including those in the receptor-binding domain, were identified. The estimated molecular evolutionary rate was 2.562E-3 mutations per site per year (95% HPD interval: 8.8067E-4 to 4.1462E-3). Bayesian skyline plot analysis indicated a significant population expansion at the end of 2021, coinciding with the global Omicron outbreak. Comparative analysis with other VOCs showed Omicron as a highly divergent, monophyletic group, suggesting a unique evolutionary pathway. Conclusions: This study provides a comprehensive overview of Omicron's genetic diversity, genomic epidemiology, and evolutionary dynamics in Pakistan, emphasizing the need for global collaboration in monitoring variants and enhancing pandemic preparedness. [ABSTRACT FROM AUTHOR]
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- 2024
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27. Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics.
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Matteson, Nathaniel, Hassler, Gabriel, Kurzban, Ezra, Schwab, Madison, Perkins, Sarah, Gangavarapu, Karthik, Levy, Joshua, Parker, Edyth, Pride, David, Hakim, Abbas, De Hoff, Peter, Cheung, Willi, Castro-Martinez, Anelizze, Rivera, Andrea, Veder, Anthony, Rivera, Ariana, Wauer, Cassandra, Holmes, Jacqueline, Wilson, Jedediah, Ngo, Shayla, Plascencia, Ashley, Lawrence, Elijah, Smoot, Elizabeth, Eisner, Emily, Tsai, Rebecca, Chacón, Marisol, Baer, Nathan, Seaver, Phoebe, Salido, Rodolfo, Aigner, Stefan, Ngo, Toan, Barber, Tom, Ostrander, Tyler, Fielding-Miller, Rebecca, Simmons, Elizabeth, Zazueta, Oscar, Serafin-Higuera, Idanya, Sanchez-Alavez, Manuel, Moreno-Camacho, Jose, García-Gil, Abraham, Murphy Schafer, Ashleigh, McDonald, Eric, Corrigan, Jeremy, Malone, John, Stous, Sarah, Shah, Seema, Moshiri, Niema, Weiss, Alana, Anderson, Catelyn, Aceves, Christine, Spencer, Emily, Hufbauer, Emory, Lee, Justin, King, Alison, Ramesh, Karthik, Nguyen, Kelly, Saucedo, Kieran, Robles-Sikisaka, Refugio, Fisch, Kathleen, Gonias, Steven, Birmingham, Amanda, McDonald, Daniel, Karthikeyan, Smruthi, Martin, Natasha, Schooley, Robert, Negrete, Agustin, Reyna, Horacio, Chavez, Jose, Garcia, Maria, Cornejo-Bravo, Jose, Becker, David, Isaksson, Magnus, Washington, Nicole, Lee, William, Garfein, Richard, Luna-Ruiz Esparza, Marco, Alcántar-Fernández, Jonathan, Henson, Benjamin, Jepsen, Kristen, Olivares-Flores, Beatriz, Barrera-Badillo, Gisela, Lopez-Martínez, Irma, Ramírez-González, José, Flores-León, Rita, Kingsmore, Stephen, Sanders, Alison, Pradenas, Allorah, White, Benjamin, Matthews, Gary, Hale, Matt, McLawhon, Ronald, Reed, Sharon, Winbush, Terri, McHardy, Ian, Fielding, Russel, Nicholson, Laura, Quigley, Michael, Harding, Aaron, Mendoza, Art, and Bakhtar, Omid
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COVID-19 ,SARS-CoV-2 ,genomic epidemiology ,mobility ,phylogenetics ,travel restrictions ,viral sequencing ,Humans ,COVID-19 ,Genomics ,Pandemics ,Public Health ,SARS-CoV-2 ,Infection Control ,Geography - Abstract
The maturation of genomic surveillance in the past decade has enabled tracking of the emergence and spread of epidemics at an unprecedented level. During the COVID-19 pandemic, for example, genomic data revealed that local epidemics varied considerably in the frequency of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lineage importation and persistence, likely due to a combination of COVID-19 restrictions and changing connectivity. Here, we show that local COVID-19 epidemics are driven by regional transmission, including across international boundaries, but can become increasingly connected to distant locations following the relaxation of public health interventions. By integrating genomic, mobility, and epidemiological data, we find abundant transmission occurring between both adjacent and distant locations, supported by dynamic mobility patterns. We find that changing connectivity significantly influences local COVID-19 incidence. Our findings demonstrate a complex meaning of local when investigating connected epidemics and emphasize the importance of collaborative interventions for pandemic prevention and mitigation.
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- 2023
28. A hybridization target enrichment approach for pathogen genomics
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Sundararaman, Balaji, Sylvester, Matthew D, Kozyreva, Varvara K, Berrada, Zenda L, Corbett-Detig, Russell B, and Green, Richard E
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Microbiology ,Clinical Sciences ,Infectious Diseases ,Biotechnology ,Clinical Research ,Human Genome ,Antimicrobial Resistance ,Emerging Infectious Diseases ,2.2 Factors relating to the physical environment ,Infection ,Good Health and Well Being ,Genomics ,Nucleic Acid Hybridization ,Whole Genome Sequencing ,Bacteria ,genomics ,genomic epidemiology ,antibiotic resistance ,whole-genome enrichment ,Biochemistry and cell biology ,Medical microbiology - Abstract
ImportanceEmerging infectious diseases require continuous pathogen monitoring. Rapid clinical diagnosis by nucleic acid amplification is limited to a small number of targets and may miss target detection due to new mutations in clinical isolates. Whole-genome sequencing (WGS) identifies genome-wide variations that may be used to determine a pathogen's drug resistance patterns and phylogenetically characterize isolates to track disease origin and transmission. WGS is typically performed using DNA isolated from cultured clinical isolates. Culturing clinical specimens increases turn-around time and may not be possible for fastidious bacteria. To overcome some of these limitations, direct sequencing of clinical specimens has been attempted using expensive capture probes to enrich the entire genomes of target pathogens. We present a method to produce a cost-effective, time-efficient, and large-scale synthesis of probes for whole-genome enrichment. We envision that our method can be used for direct clinical sequencing of a wide range of microbial pathogens for genomic epidemiology.
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- 2023
29. Molecular epidemiology and genetic dynamics of carbapenem-resistant hypervirulent Klebsiella pneumoniae in China
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Xiangchen Li, Sisi Chen, Yewei Lu, Weifeng Shen, Weixin Wang, Junli Gao, Junshun Gao, Pingyang Shao, and Zhuxian Zhou
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Klebsiella pneumoniae ,hypervirulence ,carbapenem resistance ,genomic epidemiology ,plasmids ,Microbiology ,QR1-502 - Abstract
Carbapenem-resistant hypervirulent Klebsiella pneumoniae (CRhvKP) poses a significant global health threat due to its enhanced virulence and resistance. This study analyzed 5,036 publicly available K. pneumoniae genomes from China (2005–2023), identifying 1,538 CRhvKP genomes, accounting for 44.6% of carbapenem-resistant isolates and 69.5% of hypervirulent isolates. Predominant carbapenemases included blaKPC (92.1%), with an increasing prevalence of blaNDM and blaOXA-48-like genes. Most isolates (93.6%) carried both aerobactin and yersiniabactin genes. The genetic background showed high diversity, characterized by 36 sequence types (STs) and 22 capsule types, with high-risk endemic STs such as ST11, ST15, and ST23 being predominant. ST23 demonstrated enhanced virulence, whereas ST11 carried more resistance genes but showed minimal presence of iroBCDN genes. A core genome MLST analysis revealed that 89.0% of CRhvKP isolates clustered into 131 clonal groups, indicating widespread dissemination, particularly in eastern China. CR and hv plasmids, primarily IncF, IncH, and IncR types, showed distinct community structures, with CR plasmids demonstrating higher mobility and diversity. Crucially, we identified 40 CR-hv convergent plasmids across five STs, likely resulting from plasmid fusions, which have become increasingly prevalent in eastern China over the last decade. Furthermore, chromosomal integration of hv genes and blaKPC-2 was detected, underscoring the stable inheritance of these traits. Class 1 Integrons were present in 84.5% of CRhvKP strains, most notably in ST11 and least in ST23. These integrons harbored genes that confer resistance to various antibiotics, including blaIMP and blaVIM, with their content varying across different STs. This study highlights the genetic complexity, rapid dissemination, and increasing prevalence of CRhvKP in China, emphasizing the urgent need for enhanced genomic surveillance and targeted interventions to mitigate the threat posed by these multidrug-resistant and hypervirulent strains.
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- 2025
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30. Persistent cross-species transmission systems dominate Shiga toxin-producing Escherichia coli O157:H7 epidemiology in a high incidence region: A genomic epidemiology study
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Gillian AM Tarr, Linda Chui, Kim Stanford, Emmanuel W Bumunang, Rahat Zaheer, Vincent Li, Stephen B Freedman, Chad R Laing, and Tim A McAllister
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STEC ,genomic epidemiology ,zoonosis ,E. coli O157 ,Medicine ,Science ,Biology (General) ,QH301-705.5 - Abstract
Several areas of the world suffer a notably high incidence of Shiga toxin-producing Escherichia coli. To assess the impact of persistent cross-species transmission systems on the epidemiology of E. coli O157:H7 in Alberta, Canada, we sequenced and assembled E. coli O157:H7 isolates originating from collocated cattle and human populations, 2007–2015. We constructed a timed phylogeny using BEAST2 using a structured coalescent model. We then extended the tree with human isolates through 2019 to assess the long-term disease impact of locally persistent lineages. During 2007–2015, we estimated that 88.5% of human lineages arose from cattle lineages. We identified 11 persistent lineages local to Alberta, which were associated with 38.0% (95% CI 29.3%, 47.3%) of human isolates. During the later period, six locally persistent lineages continued to be associated with human illness, including 74.7% (95% CI 68.3%, 80.3%) of reported cases in 2018 and 2019. Our study identified multiple locally evolving lineages transmitted between cattle and humans persistently associated with E. coli O157:H7 illnesses for up to 13 y. Locally persistent lineages may be a principal cause of the high incidence of E. coli O157:H7 in locations such as Alberta and provide opportunities for focused control efforts.
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- 2025
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31. Genomic surveillance of SARS-CoV-2 in Russia: insights from the VGARus platform
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Ivan A. Kotov, Matvey R. Agletdinov, German V. Roev, Ekaterina V. Pimkina, Maksim I. Nadtoka, Arina V. Peresadina, Anna Yu. Bukharina, Dmitry V. Svetlichny, Sergey E. Goncharov, Anastasiia V. Vykhodtseva, Nadezhda I. Borisova, Vladislav G. Lysenkov, Mikhail D. Chanyshev, David N. oglu Agabalaev, Valeriia V. Saenko, Anna S. Cherkashina, Tatiana A. Semenenko, Dmitry V. Dubodelov, Kamil F. Khafizov, and Vasily G. Akimkin
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genomic epidemiology ,molecular epidemiology ,sars-cov-2 ,next generation sequencing ,vgarus platform ,genomic surveillance ,Microbiology ,QR1-502 - Abstract
Introduction. In response to the COVID-19 pandemic in the Russian Federation, comprehensive response measures were taken. One of these measures was the development of a viral genome aggregation platform (VGARus) to monitor virus variability. The aim of this paper is to describe the role of the VGARus platform in tracking genetic variation in SARS-CoV-2. Materials and methods. VGARus utilizes sequencing data and bioinformatics tools to monitor genetic variations in SARS-CoV-2. The viral genomes were aligned using NextClade, which also translated them into amino acids and identified mutations. The viral variability over time was analyzed by counting the number of amino acid changes compared to the reference sequence. Results. The analysis of data within VGARus enabled the identification of new virus variants, contributing to improved diagnostic tests and vaccine development. The platform allowed for the prediction of epidemiologic trends, facilitating a rapid response to changes in the epidemiologic situation. For example, using VGARus, an increase in COVID-19 incidence was accurately predicted in the summer of 2022 and early 2023, which were associated with the emergence of Omicron subvariants BA.5 and XBB. Data from the platform helps validate the effectiveness of primers and DNA probes to ensure high diagnostic accuracy and reduce the risk of false negatives. Conclusion. VGARus demonstrates the growing role of genomic surveillance in combating COVID-19 and improving preparedness for future infectious disease outbreaks. The platform is a powerful tool for generating evidence-based solutions to combat a pandemic and mitigate its health, economic and societal impacts. It provides the ability to promptly obtain information on the epidemiologic situation in a particular region of the Russian Federation, use genomic data for phylogenetic analysis, compare the mutational spectrum of SARS-CoV-2 sequences with foreign samples. VGARus data allow for both retrospective analysis and predictive hypotheses. For example, we can clearly see the dynamics of the change of different virus variants: sequences belonging to the Alpha, Beta, Delta, Omicron lineages and many less common ones, clearly form the upsurges of morbidity, the interaction of which is reflected in the epidemiological picture. It is also currently being expanded to monitor other pathogens, increasing its public health relevance.
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- 2024
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32. Molecular characterization of Streptococcus suis isolates recovered from diseased pigs in Europe
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Kevin Li, Sonia Lacouture, Eric Lewandowski, Eric Thibault, Hubert Gantelet, Marcelo Gottschalk, and Nahuel Fittipaldi
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Swine infectious diseases ,Streptococcus suis ,genomic epidemiology ,antimicrobial resistance ,virulence-associated genes ,Europe ,Veterinary medicine ,SF600-1100 - Abstract
Abstract Streptococcus suis is a major swine pathogen and zoonotic agent, causing important economic losses to the porcine industry. Here, we used genomics approaches to characterize 251 S. suis isolates recovered from diseased pigs across Belgium, France, Germany, Hungary, the Netherlands, Spain, and the United Kingdom. We identified 13 serotypes, being serotypes 9 and 2 the most prevalent, and 34 sequence types (STs), including 16 novel STs, although ST16 and ST1 dominated the strain population. Phylogenetic analysis revealed complex genetic relationships, notable geographic clustering, and potential differential capacity for capsular switching among serotype 9 isolates. We found antimicrobial resistance (AMR) genes in 85.3% of the isolates, with high frequencies of genes conferring resistance to tetracyclines and macrolides. Specifically, 49.4% of the isolates harbored the tetO gene, and 64.9% possessed the ermB gene. Additionally, we observed a diverse array of virulence-associated genes (VAGs), including the classical VAGs mrp, epf, and sly, with variable presence across different genotypes. The high genetic diversity among European S. suis isolates highlights the importance of targeted antimicrobial use and flexible vaccine strategies. Rapid strain characterization is crucial for optimizing swine health management, enabling tailored interventions like the development of autovaccines to mitigate S. suis infections.
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- 2024
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33. Genomic Epidemiology of Large Blastomycosis Outbreak, Ontario, Canada, 2021
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Lisa R. McTaggart, Nobish Varghese, Karthikeyan Sivaraman, Samir N. Patel, and Julianne V. Kus
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blastomycosis ,genomic epidemiology ,outbreak ,Blastomyces gilchristii ,MycoSNP ,dimorphic fungi ,Medicine ,Infectious and parasitic diseases ,RC109-216 - Abstract
Using phylogenomic analysis, we provide genomic epidemiology analysis of a large blastomycosis outbreak in Ontario, Canada, caused by Blastomyces gilchristii. The outbreak occurred in a locale where blastomycosis is rarely diagnosed, signaling a possible shift in geographically associated incidence patterns. Results elucidated fungal population genetic structure, enhancing understanding of the outbreak.
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- 2024
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34. Genomic characterization of Klebsiella pneumoniae carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) strains circulating in three university hospitals in Northern Italy over three years
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Valeria Fox, Davide Mangioni, Silvia Renica, Agnese Comelli, Antonio Teri, Michela Zatelli, Beatrice Silvia Orena, Cristina Scuderi, Annalisa Cavallero, Marianna Rossi, Maddalena Casana, Ludovica Mela, Alessandra Bielli, Rossana Scutari, Paola Morelli, Lisa Cariani, Erminia Casari, Chiara Silvia Vismara, Caterina Matinato, Annapaola Callegaro, Barbara Bottazzi, Barbara Cassani, Carlo Federico Perno, Andrea Gori, Antonio Muscatello, Alessandra Bandera, and Claudia Alteri
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K. pneumoniae carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) ,WGS ,Genomic epidemiology ,Antimicrobial resistance (AMR) ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Objectives Genomic surveillance of Klebsiella pneumoniae carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) is crucial for virulence, drug-resistance monitoring, and outbreak containment. Methods Genomic analysis on 87 KPC-Kp strains isolated from 3 Northern Italy hospitals in 2019-2021 was performed by whole genome sequencing (WGS), to characterize resistome, virulome, and mobilome, and to assess potential associations with phenotype resistance and clinical presentation. Maximum Likelihood and Minimum Spanning Trees were used to determine strain correlations and identify potential transmission clusters. Results Overall, 15 different STs were found; the predominant ones included ST307 (35, 40.2%), ST512/1519 (15, 17.2%), ST20 (12, 13.8%), and ST101 (7, 8.1%). 33 (37.9%) KPC-Kp strains were noticed to be in five transmission clusters (median number of isolates in each cluster: 5 [3-10]), four of them characterized by intra-hospital transmission. All 87 strains harbored Tn4401a transposon, carrying bla KPC-3 (48, 55.2%), bla KPC-2 (38, 43.7%), and in one case (1.2%) bla KPC-33, the latter gene conferred resistance to ceftazidime/avibactam (CZA). Thirty strains (34.5%) harbored porin mutations; of them, 7 (8.1%) carried multiple Tn4401a copies. These strains were characterized by significantly higher CZA minimum inhibitory concentration compared with strains with no porin mutations or single Tn4401a copy, respectively, even if they did not overcome the resistance breakpoint of 8 ug/mL. Median 2 (IQR:1-2) virulence factors per strain were detected. The lowest number was observed in ST20 compared to the other STs (p
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- 2024
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35. North–south pathways, emerging variants, and high climate suitability characterize the recent spread of dengue virus serotypes 2 and 3 in the Dominican Republic
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Isaac Miguel, Edwin P. Feliz, Robinson Agramonte, Pedro V. Martinez, Carlos Vergara, Yvonne Imbert, Lucia De la Cruz, Nurys de Castro, Odalis Cedano, Yamilka De la Paz, Vagner Fonseca, Gilberto A. Santiago, Jorge L. Muñoz-Jordán, Armando Peguero, Robert Paulino-Ramírez, Nathan D. Grubaugh, Ana Maria Bispo de Filippis, Luiz Carlos Junior Alcantara, Jairo Mendez Rico, José Lourenço, Leticia Franco, and Marta Giovanetti
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Dengue virus ,Genomic epidemiology ,Dominican Republic ,Caribbean ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Dengue fever remains a significant public health challenge in tropical and subtropical regions, with its transmission dynamics being influenced by both environmental factors and human mobility. The Dominican Republic, a biodiversity hotspot in the Caribbean, has experienced recurrent dengue outbreaks, yet detailed understanding of the virus's transmission pathways and the impact of climatic factors remains limited. This study aims to elucidate the recent transmission dynamics of the dengue virus (DENV) in the Dominican Republic, utilizing a combination of genomic sequencing and epidemiological data analysis, alongside an examination of historical climate patterns. Methods We conducted a comprehensive study involving the genomic sequencing of DENV samples collected from patients across different regions of the Dominican Republic over a two-year period. Phylogenetic analyses were performed to identify the circulation of DENV lineages and to trace transmission pathways. Epidemiological data were integrated to analyze trends in dengue incidence and distribution. Additionally, we integrated historical climate data spanning several decades to assess trends in temperature and their potential impact on DENV transmission potential. Results Our results highlight a previously unknown north–south transmission pathway within the country, with the co-circulation of multiple virus lineages. Additionally, we examine the historical climate data, revealing long-term trends towards higher theoretical potential for dengue transmission due to rising temperatures. Conclusion This multidisciplinary study reveals intricate patterns of dengue virus transmission in the Dominican Republic, characterized by the co-circulation of multiple DENV lineages and a novel transmission pathway. The observed correlation between rising temperatures and increased dengue transmission potential emphasizes the need for integrated climate-informed strategies in dengue control efforts. Our findings offer critical insights for public health authorities in the Dominican Republic and similar settings, guiding resource allocation and the development of preparedness strategies to mitigate the impacts of climate change on dengue transmission.
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- 2024
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36. Molecular characterization of Streptococcus suis isolates recovered from diseased pigs in Europe.
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Li, Kevin, Lacouture, Sonia, Lewandowski, Eric, Thibault, Eric, Gantelet, Hubert, Gottschalk, Marcelo, and Fittipaldi, Nahuel
- Abstract
Streptococcus suis is a major swine pathogen and zoonotic agent, causing important economic losses to the porcine industry. Here, we used genomics approaches to characterize 251 S. suis isolates recovered from diseased pigs across Belgium, France, Germany, Hungary, the Netherlands, Spain, and the United Kingdom. We identified 13 serotypes, being serotypes 9 and 2 the most prevalent, and 34 sequence types (STs), including 16 novel STs, although ST16 and ST1 dominated the strain population. Phylogenetic analysis revealed complex genetic relationships, notable geographic clustering, and potential differential capacity for capsular switching among serotype 9 isolates. We found antimicrobial resistance (AMR) genes in 85.3% of the isolates, with high frequencies of genes conferring resistance to tetracyclines and macrolides. Specifically, 49.4% of the isolates harbored the tetO gene, and 64.9% possessed the ermB gene. Additionally, we observed a diverse array of virulence-associated genes (VAGs), including the classical VAGs mrp, epf, and sly, with variable presence across different genotypes. The high genetic diversity among European S. suis isolates highlights the importance of targeted antimicrobial use and flexible vaccine strategies. Rapid strain characterization is crucial for optimizing swine health management, enabling tailored interventions like the development of autovaccines to mitigate S. suis infections. [ABSTRACT FROM AUTHOR]
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- 2024
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37. Climate, demography, immunology, and virology combine to drive two decades of dengue virus dynamics in Cambodia.
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Brook, Cara E., Rozins, Carly, Bohl, Jennifer A., Ahyong, Vida, Chea, Sophana, Fahsbender, Liz, Huy, Rekol, Lay, Sreyngim, Leang, Rithea, Yimei Li, Chanthap Lon, Somnang Man, Mengheng Oum, Northrup, Graham R., Oliveira, Fabiano, Pacheco, Andrea R., Parker, Daniel M., Young, Katherine, Boots, Michael, and Tato, Cristina M.
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DENGUE viruses , *VIRUS diseases , *OLDER patients , *DENGUE , *EPIDEMIOLOGICAL models - Abstract
The incidence of dengue virus disease has increased globally across the past half-century, with highest number of cases ever reported in 2019 and again in 2023. We analyzed climatological, epidemiological, and phylogenomic data to investigate drivers of two decades of dengue in Cambodia, an understudied endemic setting. Using epidemiological models fit to a 19-y dataset, we first demonstrate that climate-driven transmission alone is insufficient to explain three epidemics across the time series. We then use wavelet decomposition to highlight enhanced annual and multiannual synchronicity in dengue cycles between provinces in epidemic years, suggesting a role for climate in homogenizing dynamics across space and time. Assuming reported cases correspond to symptomatic secondary infections, we next use an age-structured catalytic model to estimate a declining force of infection for dengue through time, which elevates the mean age of reported cases in Cambodia. Reported cases in >70-y-old individuals in the 2019 epidemic are best explained when also allowing for waning multitypic immunity and repeat symptomatic infections in older patients. We support this work with phylogenetic analysis of 192 dengue virus (DENV) genomes that we sequenced between 2019 and 2022, which document emergence of DENV-2 Cosmopolitan Genotype-II into Cambodia. This lineage demonstrates phylogenetic homogeneity across wide geographic areas, consistent with invasion behavior and in contrast to high phylogenetic diversity exhibited by endemic DENV-1. Finally, we simulate an age-structured, mechanistic model of dengue dynamics to demonstrate how expansion of an antigenically distinct lineage that evades preexisting multitypic immunity effectively reproduces the older-age infections witnessed in our data. [ABSTRACT FROM AUTHOR]
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- 2024
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38. Analysis of a Large Severe Acute Respiratory Syndrome Coronavirus 2 (Alpha) Outbreak in a Catalan Prison Using Conventional and Genomic Epidemiology.
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Bordoy, Antoni E, Vallès, Xavier, Fernández-Náger, Juan, Sánchez-Roig, Montserrat, Fernández-Recio, Juan, Saludes, Verónica, Noguera-Julian, Marc, Blanco, Ignacio, Martró, Elisa, and Group, for the Quatre Camins COVID-19 Study
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SARS-CoV-2 , *VIRAL transmission , *AIRBORNE infection , *INFECTIOUS disease transmission , *CONTACT tracing - Abstract
Enforcing strict protocols that prevent transmission of airborne infections in prisons is challenging. We examine a large severe acute respiratory syndrome coronavirus 2 outbreak in a Catalan penitentiary center in February–April 2021, prior to vaccination deployment. The aim was to describe the evolution of the outbreak using classical and genomic epidemiology and the containment strategy applied. The outbreak was initially detected in 1 module but spread to 4, infecting 7 staff members and 140 incarcerated individuals, 6 of whom were hospitalized (4.4%). Genomic analysis confirmed a single origin (B.1.1.7). Contact tracing identified transmission vectors between modules and prevented further viral spread. In future similar scenarios, the control strategy described here may help limit transmission of airborne infections in correctional settings. [ABSTRACT FROM AUTHOR]
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- 2024
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39. Emergence of Recombinant SARS-CoV-2 Variants in California from 2020 to 2022.
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Ryder, Rahil, Smith, Emily, Borthwick, Deva, Elder, Jesse, Panditrao, Mayuri, Morales, Christina, and Wadford, Debra A.
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WHOLE genome sequencing , *SARS-CoV-2 , *SAMPLE size (Statistics) , *GENOMES , *PUBLIC health - Abstract
The detection, characterization, and monitoring of SARS-CoV-2 recombinant variants constitute a challenge for public health authorities worldwide. Recombinant variants, composed of two or more SARS-CoV-2 lineages, often have unknown impacts on transmission, immune escape, and virulence in the early stages of emergence. We examined 4213 SARS-CoV-2 recombinant SARS-CoV-2 genomes collected between 2020 and 2022 in California to describe regional and statewide trends in prevalence. Many of these recombinant genomes, such as those belonging to the XZ lineage or novel recombinant lineages, likely originated within the state of California. We discuss the challenges and limitations surrounding Pango lineage assignments, the use of publicly available sequence data, and adequate sample sizes for epidemiologic analyses. Although these challenges will continue as SARS-CoV-2 sequencing volumes decrease globally, this study enhances our understanding of SARS-CoV-2 recombinant genomes to date while providing a foundation for future insights into emerging recombinant lineages. [ABSTRACT FROM AUTHOR]
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- 2024
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40. North–south pathways, emerging variants, and high climate suitability characterize the recent spread of dengue virus serotypes 2 and 3 in the Dominican Republic.
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Miguel, Isaac, Feliz, Edwin P., Agramonte, Robinson, Martinez, Pedro V., Vergara, Carlos, Imbert, Yvonne, De la Cruz, Lucia, de Castro, Nurys, Cedano, Odalis, De la Paz, Yamilka, Fonseca, Vagner, Santiago, Gilberto A., Muñoz-Jordán, Jorge L., Peguero, Armando, Paulino-Ramírez, Robert, Grubaugh, Nathan D., de Filippis, Ana Maria Bispo, Alcantara, Luiz Carlos Junior, Rico, Jairo Mendez, and Lourenço, José
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DENGUE viruses ,EPIDEMIOLOGY ,VIRAL transmission ,SEROTYPES ,DENGUE - Abstract
Background: Dengue fever remains a significant public health challenge in tropical and subtropical regions, with its transmission dynamics being influenced by both environmental factors and human mobility. The Dominican Republic, a biodiversity hotspot in the Caribbean, has experienced recurrent dengue outbreaks, yet detailed understanding of the virus's transmission pathways and the impact of climatic factors remains limited. This study aims to elucidate the recent transmission dynamics of the dengue virus (DENV) in the Dominican Republic, utilizing a combination of genomic sequencing and epidemiological data analysis, alongside an examination of historical climate patterns. Methods: We conducted a comprehensive study involving the genomic sequencing of DENV samples collected from patients across different regions of the Dominican Republic over a two-year period. Phylogenetic analyses were performed to identify the circulation of DENV lineages and to trace transmission pathways. Epidemiological data were integrated to analyze trends in dengue incidence and distribution. Additionally, we integrated historical climate data spanning several decades to assess trends in temperature and their potential impact on DENV transmission potential. Results: Our results highlight a previously unknown north–south transmission pathway within the country, with the co-circulation of multiple virus lineages. Additionally, we examine the historical climate data, revealing long-term trends towards higher theoretical potential for dengue transmission due to rising temperatures. Conclusion: This multidisciplinary study reveals intricate patterns of dengue virus transmission in the Dominican Republic, characterized by the co-circulation of multiple DENV lineages and a novel transmission pathway. The observed correlation between rising temperatures and increased dengue transmission potential emphasizes the need for integrated climate-informed strategies in dengue control efforts. Our findings offer critical insights for public health authorities in the Dominican Republic and similar settings, guiding resource allocation and the development of preparedness strategies to mitigate the impacts of climate change on dengue transmission. [ABSTRACT FROM AUTHOR]
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- 2024
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41. Genomic characterization of Klebsiella pneumoniae carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) strains circulating in three university hospitals in Northern Italy over three years.
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Fox, Valeria, Mangioni, Davide, Renica, Silvia, Comelli, Agnese, Teri, Antonio, Zatelli, Michela, Orena, Beatrice Silvia, Scuderi, Cristina, Cavallero, Annalisa, Rossi, Marianna, Casana, Maddalena, Mela, Ludovica, Bielli, Alessandra, Scutari, Rossana, Morelli, Paola, Cariani, Lisa, Casari, Erminia, Vismara, Chiara Silvia, Matinato, Caterina, and Callegaro, Annapaola
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KLEBSIELLA pneumoniae ,KLEBSIELLA infections ,UNIVERSITY hospitals ,WHOLE genome sequencing ,COLONIZATION (Ecology) ,SPANNING trees ,GENOMICS - Abstract
Objectives: Genomic surveillance of Klebsiella pneumoniae carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) is crucial for virulence, drug-resistance monitoring, and outbreak containment. Methods: Genomic analysis on 87 KPC-Kp strains isolated from 3 Northern Italy hospitals in 2019-2021 was performed by whole genome sequencing (WGS), to characterize resistome, virulome, and mobilome, and to assess potential associations with phenotype resistance and clinical presentation. Maximum Likelihood and Minimum Spanning Trees were used to determine strain correlations and identify potential transmission clusters. Results: Overall, 15 different STs were found; the predominant ones included ST307 (35, 40.2%), ST512/1519 (15, 17.2%), ST20 (12, 13.8%), and ST101 (7, 8.1%). 33 (37.9%) KPC-Kp strains were noticed to be in five transmission clusters (median number of isolates in each cluster: 5 [3-10]), four of them characterized by intra-hospital transmission. All 87 strains harbored Tn4401a transposon, carrying bla
KPC-3 (48, 55.2%), blaKPC-2 (38, 43.7%), and in one case (1.2%) blaKPC-33, the latter gene conferred resistance to ceftazidime/avibactam (CZA). Thirty strains (34.5%) harbored porin mutations; of them, 7 (8.1%) carried multiple Tn4401a copies. These strains were characterized by significantly higher CZA minimum inhibitory concentration compared with strains with no porin mutations or single Tn4401a copy, respectively, even if they did not overcome the resistance breakpoint of 8 ug/mL. Median 2 (IQR:1-2) virulence factors per strain were detected. The lowest number was observed in ST20 compared to the other STs (p<0.001). While ST307 was associated with infection events, a trend associated with colonization events could be observed for ST20. Conclusions: Integration of genomic, resistance score, and clinical data allowed us to define a relative diversification of KPC-Kp in Northern Italy between 2019 and 2021, characterized by few large transmission chains and rare inter-hospital transmission. Our results also provided initial evidence of correlation between KPC-Kp genomic signatures and higher MIC levels to some antimicrobial agents or colonization/infection status, once again underlining WGS's importance in bacterial surveillance. [ABSTRACT FROM AUTHOR]- Published
- 2024
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42. Introduction of dengue virus serotype 3 in the Afar Region, Ethiopia
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Feleke Mekonnen, Bilal A. Khan, Endalkachew Nibret, Abaineh Munshea, Daniel Tsega, Demeke Endalamaw, Senait Tadesse, Gizachew Yismaw, Damtie Lankir, Jemal Ali, Mariana Ulinici, Emanuele Orsini, Urša Šušnjar, Tea Carletti, Danilo Licastro, Molalegne Bitew, Marta Giovanetti, and Alessandro Marcello
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Ethiopia ,dengue ,outbreak ,genomic epidemiology ,Italy ,Infectious and parasitic diseases ,RC109-216 ,Microbiology ,QR1-502 - Abstract
The genetic analysis of the Dengue virus circulating in Ethiopia’s Afar region, in 2023, identified three distinct introductions with spatiotemporal clustering linked to genomes from Asia and Italy. These findings are crucial for enhancing prevention and control strategies, reinforcing the necessity to provide sustainable tools for genomic epidemiology in Africa.
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- 2024
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43. Association between genetic clades and cancer prevalence suggested by French-wide study of oncogenic small ruminant β-retrovirus diversity
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Benjamin Riocreux-Verney, Marie Verneret, Rémi Diesler, Christine Dolmazon, Barbara Gineys, Jean-Luc Cadoré, Jocelyn Turpin, and Caroline Leroux
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JSRV ,ENTV-1 ,ENTV-2 ,virulence factors ,genomic epidemiology ,Microbiology ,QR1-502 - Abstract
IntroductionENTV (Enzootic Nasal Tumor Virus) and JSRV (Jaagsiekte Sheep Retrovirus) are β-retroviruses responsible for respiratory cancers in sheep and goats. In this study, we analyzed the genetic features of the sheep and goat β-Retroviruses (29 JSRV and 24 ENTV strains) circulating in France to identify molecular signatures associated with disease severity in flocks.MethodsWe developed a highly specific PCR to amplify and sequence exogenous targeted regions or near full length proviruses based on limited discriminating motifs along their genomes.ResultsThe phylogenetic reconstructions based on the Long Terminal Repeat (LTR) and env regions suggest that one major strain is circulating on the French territory for ENTV-1 and ENTV-2 while not clustering with already published Spanish, Canadian or Chinese strains. JSRV strains circulating in French sheep flocks were distributed in 2 distinct genetic clades clustering with sequences originating from North America, Africa and United-Kingdom. JSRV clade I was found to be associated with a higher incidence of cancer in French flocks. Specific motifs spanning the entire JSRV genome particularly in the LTRs and in the intracytoplasmic domain of the envelope were detected between the two genetic subtypes.DiscussionThis work represents the first nationwide study describing the circulation of the three closely related β-oncogenic retroviruses JSRV, ENTV-1 and ENTV-2 in French sheep and goat flocks. Better characterization of strain genetics is a critical step in monitoring circulating - retroviruses, especially those associated with higher cancer incidence in small ruminants.
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- 2024
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44. Genome-based model for differentiating between infection and carriage Staphylococcus aureus
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Jianyu Chen, Wenyin Du, Yuehe Li, Huiliu Zhou, Dejia Ouyang, Zhenjiang Yao, Jinjian Fu, and Xiaohua Ye
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Staphylococcus aureus ,genome-wide association study ,genomic epidemiology ,bacterial genomics ,pathogenicity ,Microbiology ,QR1-502 - Abstract
ABSTRACT Staphylococcus aureus (S. aureus) is a clinically significant opportunistic pathogen, which can colonize multiple body sites in healthy individuals and cause various life-threatening diseases in both children and adults worldwide. The genetic backgrounds of S. aureus that cause infection versus asymptomatic carriage vary widely, but the potential genetic elements (k-mers) associated with S. aureus infection remain unknown, which leads to difficulties in differentiating infection isolates from harmless colonizers. Here, we address the disease-associated k-mers by using a comprehensive genome-wide association study (GWAS) to compare the genetic variation of S. aureus isolates from clinical infection sites (272 isolates) with nasal carriage (240 isolates). This study uncovers consensus evidence that certain k-mers are overrepresented in infection isolates compared with carriage isolates, indicating the presence of specific genetic elements associated with S. aureus infection. Moreover, the random forest (RF) model achieved a classification accuracy of 77% for predicting disease status (infection vs carriage), with 68% accuracy for a single highest-ranked k-mer, providing a simple target for identifying high-risk genotypes. Our findings suggest that the disease-causing S. aureus is a pathogenic subpopulation harboring unique genomic variation that promotes invasion and infection, providing novel targets for clinical interventions.IMPORTANCEDefining the disease-causing isolates is the first step toward disease control. However, the disease-associated genetic elements of Staphylococcus aureus remain unknown, which leads to difficulties in differentiating infection isolates from harmless carriage isolates. Our comprehensive genome-wide association study (GWAS) found consensus evidence that certain genetic elements are overrepresented among infection isolates than carriage isolates, suggesting that the enrichment of disease-associated elements may promote infection. Notably, a single k-mer predictor achieved a high classification accuracy, which forms the basis for early diagnostics and interventions.
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- 2024
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45. Genomic epidemiology and evolutionary dynamics of the Omicron variant of SARS-CoV-2 during the fifth wave of COVID-19 in Pakistan
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Aroona Razzaq, Cyrollah Disoma, Sonia Iqbal, Ayesha Nisar, Muddassar Hameed, Abdul Qadeer, Muhammad Waqar, Sardar Azhar Mehmood, Lidong Gao, Sawar Khan, and Zanxian Xia
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COVID-19 ,Omicron ,genomic epidemiology ,SARS-CoV-2 ,VOCs ,Microbiology ,QR1-502 - Abstract
IntroductionThe coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has posed extraordinary challenges to global health systems and economies. The virus’s rapid evolution has resulted in several variants of concern (VOCs), including the highly transmissible Omicron variant, characterized by extensive mutations. In this study, we investigated the genetic diversity, population differentiation, and evolutionary dynamics of the Omicron VOC during the fifth wave of COVID-19 in Pakistan.MethodsA total of 954 Omicron genomes sequenced during the fifth wave of COVID-19 in Pakistan were analyzed. A Bayesian framework was employed for phylogenetic reconstructions, molecular dating, and population dynamics analysis.ResultsUsing a population genomics approach, we analyzed Pakistani Omicron samples, revealing low within-population genetic diversity and significant structural variation in the spike (S) protein. Phylogenetic analysis showed that the Omicron variant in Pakistan originated from two distinct lineages, BA.1 and BA.2, which were introduced from South Africa, Thailand, Spain, and Belgium. Omicron-specific mutations, including those in the receptor-binding domain, were identified. The estimated molecular evolutionary rate was 2.562E-3 mutations per site per year (95% HPD interval: 8.8067E-4 to 4.1462E-3). Bayesian skyline plot analysis indicated a significant population expansion at the end of 2021, coinciding with the global Omicron outbreak. Comparative analysis with other VOCs showed Omicron as a highly divergent, monophyletic group, suggesting a unique evolutionary pathway.ConclusionsThis study provides a comprehensive overview of Omicron’s genetic diversity, genomic epidemiology, and evolutionary dynamics in Pakistan, emphasizing the need for global collaboration in monitoring variants and enhancing pandemic preparedness.
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- 2024
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46. Recurrence, Microevolution, and Spatiotemporal Dynamics of Legionella pneumophila Sequence Type 1905, Portugal, 2014–2022
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Vera Manageiro, Vítor Borges, Raquel Rodrigues, Célia Bettencourt, Cecília Silva, João Paulo Gomes, and Paulo Gonçalves
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Legionella pneumophila ,ST1905 ,recurrence ,outbreak ,genomic epidemiology ,bacteria ,Medicine ,Infectious and parasitic diseases ,RC109-216 - Abstract
We investigated molecular evolution and spatiotemporal dynamics of atypical Legionella pneumophila serogroup 1 sequence type 1905 and determined its long-term persistence and linkage to human disease in dispersed locations, far beyond the large 2014 outbreak epicenter in Portugal. Our finding highlights the need for public health interventions to prevent further disease spread.
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- 2024
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47. Emergence of Poultry-Associated Human Salmonella enterica Serovar Abortusovis Infections, New South Wales, Australia
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Michael Payne, Sarah Williamson, Qinning Wang, Xiaomei Zhang, Vitali Sintchenko, Anthony Pavic, and Ruiting Lan
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Salmonella enterica Abortusovis ,bacteria ,food safety ,enteric infections ,zoonoses ,genomic epidemiology ,Medicine ,Infectious and parasitic diseases ,RC109-216 - Abstract
Salmonella enterica serovar Abortusovis is a ovine-adapted pathogen that causes spontaneous abortion. Salmonella Abortusovis was reported in poultry in 2009 and has since been reported in human infections in New South Wales, Australia. Phylogenomic analysis revealed a clade of 51 closely related isolates from Australia originating in 2004. That clade was genetically distinct from ovine-associated isolates. The clade was widespread in New South Wales poultry production facilities but was only responsible for sporadic human infections. Some known virulence factors associated with human infections were only found in the poultry-associated clade, some of which were acquired through prophages and plasmids. Furthermore, the ovine-associated clade showed signs of genome decay, but the poultry-associated clade did not. Those genomic changes most likely led to differences in host range and disease type. Surveillance using the newly identified genetic markers will be vital for tracking Salmonella Abortusovis transmission in animals and to humans and preventing future outbreaks.
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- 2024
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48. Using genomic epidemiology of SARS-CoV-2 to support contact tracing and public health surveillance in rural Humboldt County, California
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Stoddard, Gunnar, Black, Allison, Ayscue, Patrick, Lu, Dan, Kamm, Jack, Bhatt, Karan, Chan, Lienna, Kistler, Amy L, Batson, Joshua, Detweiler, Angela, Tan, Michelle, Neff, Norma, DeRisi, Joseph L, and Corrigan, Jeremy
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Health Services and Systems ,Health Sciences ,Emerging Infectious Diseases ,Vaccine Related ,Infectious Diseases ,Biodefense ,Prevention ,Genetics ,Human Genome ,Infection ,Good Health and Well Being ,COVID-19 ,Contact Tracing ,Disease Outbreaks ,Genomics ,Humans ,Pandemics ,Phylogeny ,Public Health Surveillance ,SARS-CoV-2 ,Genomic epidemiology ,Public health response ,Public Health and Health Services ,Public Health ,Epidemiology ,Health services and systems ,Public health - Abstract
BackgroundDuring the COVID-19 pandemic within the United States, much of the responsibility for diagnostic testing and epidemiologic response has relied on the action of county-level departments of public health. Here we describe the integration of genomic surveillance into epidemiologic response within Humboldt County, a rural county in northwest California.MethodsThrough a collaborative effort, 853 whole SARS-CoV-2 genomes were generated, representing ~58% of the 1,449 SARS-CoV-2-positive cases detected in Humboldt County as of March 12, 2021. Phylogenetic analysis of these data was used to develop a comprehensive understanding of SARS-CoV-2 introductions to the county and to support contact tracing and epidemiologic investigations of all large outbreaks in the county.ResultsIn the case of an outbreak on a commercial farm, viral genomic data were used to validate reported epidemiologic links and link additional cases within the community who did not report a farm exposure to the outbreak. During a separate outbreak within a skilled nursing facility, genomic surveillance data were used to rule out the putative index case, detect the emergence of an independent Spike:N501Y substitution, and verify that the outbreak had been brought under control.ConclusionsThese use cases demonstrate how developing genomic surveillance capacity within local public health departments can support timely and responsive deployment of genomic epidemiology for surveillance and outbreak response based on local needs and priorities.
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- 2022
49. Genomic Surveillance of Invasive Meningococcal Disease During a National MenW Outbreak in Australia, 2017–2018.
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Sotheran, Emily, Lane, Courtney R, Horan, Kristy, Stevens, Kerrie, Guglielmino, Christine, Bradbury, Susan, Kennedy, Karina, Cooley, Louise, McEwan, Belinda, Kahler, Charlene M, Mowlaboccus, Shakeel, Speers, David J, Baird, Robert, Freeman, Kevin, Leong, Lex, Warner, Morgyn, Williamson, Deborah A, McVernon, Jodie, Lahra, Monica, and Jennison, Amy V
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MENINGOCOCCAL infections , *WHOLE genome sequencing , *NEISSERIA , *GENETIC variation , *SINGLE nucleotide polymorphisms - Abstract
Background In Australia, invasive meningococcal disease (IMD) incidence rapidly increased between 2014 and 2017 due to rising serogroup W (MenW) and MenY infections. We aimed to better understand the genetic diversity of IMD during 2017 and 2018 using whole genome sequencing data. Methods Whole genome sequencing data from 440 Australian IMD isolates collected during 2017 and 2018 and 1737 international MenW:CC11 isolates collected in Europe, Africa, Asia, North America, and South America between 1974 and 2020 were used in phylogenetic analyses; genetic relatedness was determined from single-nucleotide polymorphisms. Results Australian isolates were as follows: 181 MenW (41%), 144 MenB (33%), 88 MenY (20%), 16 MenC (4%), 1 MenW/Y (0.2%), and 10 nongenogroupable (2%). Eighteen clonal complexes (CCs) were identified, and 3 (CC11, CC23, CC41/44) accounted for 78% of isolates (343/440). These CCs were associated with specific serogroups: CC11 (n = 199) predominated among MenW (n = 181) and MenC (n = 15), CC23 (n = 80) among MenY (n = 78), and CC41/44 (n = 64) among MenB (n = 64). MenB isolates were highly diverse, MenY were intermediately diverse, and MenW and MenC isolates demonstrated the least genetic diversity. Thirty serogroup and CC-specific genomic clusters were identified. International CC11 comparison revealed diversification of MenW in Australia. Conclusions Whole genome sequencing comprehensively characterized Australian IMD isolates, indexed their genetic variability, provided increased within-CC resolution, and elucidated the evolution of CC11 in Australia. [ABSTRACT FROM AUTHOR]
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- 2024
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50. Epidemiological Characterization and Genetic Variation of the SARS-CoV-2 Delta Variant in Palestine.
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Ereqat, Suheir, Alikhan, Nabil-Fareed, Al-Jawabreh, Amer, Matthews, Michaela, Al-Jawabreh, Ahmed, de Oliveira Martins, Leonardo, Trotter, Alexander J., Al-Kaila, Mai, Page, Andrew J., Pallen, Mark J., and Nasereddin, Abedelmajeed
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SARS-CoV-2 Delta variant ,GENETIC variation ,SARS-CoV-2 ,NATURAL selection ,VIRAL genomes - Abstract
The emergence of new SARS-CoV-2 variants in Palestine highlights the need for continuous genetic surveillance and accurate screening strategies. This case series study aimed to investigate the geographic distribution and genetic variation of the SARS-CoV-2 Delta Variant in Palestine in August 2021. Samples were collected at random in August 2021 (n = 571) from eight districts in the West Bank, Palestine. All samples were confirmed as positive for COVID-19 by RT-PCR. The samples passed the quality control test and were successfully sequenced using the ARTIC protocol. The Delta Variant was revealed to have four dominant lineages: B.1.617 (19%), AY.122 (18%), AY.106 (17%), and AY.121 (13%). The study revealed eight significant purely spatial clusters (p < 0.005) distributed in the northern and southern parts of Palestine. Phylogenetic analysis of SARS-CoV-2 genomes (n = 552) showed no geographically specific clades. The haplotype network revealed three haplogroups without any geographic distribution. Chronologically, the Delta Variant peak in Palestine was shortly preceded by the one in the neighboring Israeli community and shortly followed by the peak in Jordan. In addition, the study revealed an extremely intense transmission network of the Delta Variant circulating between the Palestinian districts as hubs (SHR ≈ 0.5), with Al-Khalil, the district with the highest prevalence of COVID-19, witnessing the highest frequency of transitions. Genetic diversity analysis indicated closely related haplogroups, as haplotype diversity (Hd) is high but has low nucleotide diversity (π). However, nucleotide diversity (π) in Palestine is still higher than the global figures. Neutrality tests were significantly (p < 0.05) low, including Tajima's D, Fu-Li's F, and Fu-Li's D, suggesting one or more of the following: population expansion, selective sweep, and natural negative selection. Wright's F-statistic (Fst) showed genetic differentiation (Fst > 0.25) with low to medium gene flow (Nm). Recombination events were minimal between clusters (R
m ) and between adjacent sites (Rs ). The study confirms the utility of the whole genome sequence as a surveillance system to track the emergence of new SARS-CoV-2 variants for any possible geographical association and the use of genetic variation analysis and haplotype networking to delineate any minimal change or slight deviation in the viral genome from a reference strain. [ABSTRACT FROM AUTHOR]- Published
- 2024
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