Genome sequencing of fungal pathogens have documented extensive variation in genome structure and composition between species and in many cases between individuals of the same species. This type of genomic variation can be adaptive for pathogens to rapidly evolve new virulence phenotypes. Analyses of genome-wide variation in fungal pathogen genomes rely on high quality assemblies and methods to detect and quantify structural variation. Population genomic studies in fungi have addressed the underlying mechanisms whereby structural variation can be rapidly generated. Transposable elements, high mutation and recombination rates as well as incorrect chromosome segregation during mitosis and meiosis contribute to extensive variation observed in many species. We here summarize key findings in the field of fungal pathogen genomics and we discuss methods to detect and characterize structural variants including an alignment-based pipeline to study variation in population genomic data.
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http://dx.doi.org/10.1007/978-1-0716-0199-0_14 | DOI Listing |
Viruses
January 2025
Département de Virologie, Institut Pasteur de Dakar, Dakar BP 220, Senegal.
Despite extensive experience with influenza surveillance in humans in Senegal, there is limited knowledge about the actual situation and genetic diversity of avian influenza viruses (AIVs) circulating in the country, hindering control measures and pandemic risk assessment. Therefore, as part of the "One Health" approach to influenza surveillance, we conducted active AIV surveillance in two live bird markets (LBMs) in Dakar to better understand the dynamics and diversity of influenza viruses in Senegal, obtain genetic profiles of circulating AIVs, and assess the risk of emergence of novel strains and their transmission to humans. Cloacal swabs from poultry and environmental samples collected weekly from the two LBMs were screened by RT-qPCR for H5, H7, and H9 AIVs.
View Article and Find Full Text PDFNutrients
January 2025
University Centre for Prevention and Sports Medicine, Department of Orthopaedics, Balgrist University Hospital, University of Zurich, 8008 Zurich, Switzerland.
Background/objectives: In recent years, there has been a growing interest in precision nutrition and its potential for disease prevention. Differences in individual responses to diet, especially among populations of different ancestry, have underlined the importance of understanding the effects of genetic variations on nutrient intake (nutrigenomics). Since humans generally cannot synthesize essential vitamins, the maintenance of healthy bodily functions depends on dietary vitamin intake.
View Article and Find Full Text PDFPathogens
January 2025
Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain.
is the causative agent of Chagas disease, a neglected tropical disease, and one of the most important parasitic diseases worldwide. The first genome of was sequenced in 2005, and its complexity made assembly and annotation challenging. Nowadays, new sequencing methods have improved some strains' genome sequence and annotation, revealing this parasite's extensive genetic diversity and complexity.
View Article and Find Full Text PDFPathogens
January 2025
Department of Microbiology and Immunology, Faculty of Pharmacy, "Ovidius" University of Constanta, Str. Căpitan Aviator Al. Șerbănescu, nr.6, Campus Corp C, 900470 Constanta, Romania.
Cystic echinococcosis (CE) is a neglected tropical parasitic disease linked with significant social and economic burdens worldwide. The scientific community has minimal information on echinococcosis in Romanian people, and hospital medical records are the only sources that may be used to investigate its status. A 7-year retrospective clinical study on pediatric patients with CE from Southeast Romania was performed, and 39 children and adolescents were included, aged 2-15 years old.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.
The progression of colorectal cancer is strongly influenced by environmental and genetic conditions. One of the key factors is tumor heterogeneity which is extensively studied by cfDNA and bulk sequencing methods; however, we lack knowledge regarding its effects at the single-cell level. Motivated by this, we aimed to employ an end-to-end single-cell sequencing workflow from tissue-derived sample isolation to exome sequencing.
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