1,537 results match your criteria: "Centre for Bioinformatics[Affiliation]"

UNITY: A low-field magnetic resonance neuroimaging initiative to characterize neurodevelopment in low and middle-income settings.

Dev Cogn Neurosci

October 2024

Centre for Neuroimaging Sciences, King's College London, London, UK; Waisman Research Center, Madison, WI, USA. Electronic address:

Measures of physical growth, such as weight and height have long been the predominant outcomes for monitoring child health and evaluating interventional outcomes in public health studies, including those that may impact neurodevelopment. While physical growth generally reflects overall health and nutritional status, it lacks sensitivity and specificity to brain growth and developing cognitive skills and abilities. Psychometric tools, e.

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The mangrove red snapper, Lutjanus argentimaculatus, is a marine food fish of economic and aquaculture importance. The application of genomic selection-based breeding programs for this species is limited by the absence of a reference genome and transcriptome profiles. The current study attempted to fill this void by generating genomic and transcriptomic resources for red snapper.

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Physical cell-cell contact elicits specific transcriptomic responses in wine yeast species.

Microbiol Spectr

August 2024

Department of Viticulture and Oenology, South African Grape and Wine Research Institute, Stellenbosch University, Stellenbosch, Western Cape, South Africa.

Fermenting grape juice provides a habitat for a well-mapped and evolutionarily relevant microbial ecosystem consisting of many natural or inoculated strains of yeasts and bacteria. The molecular nature of many of the ecological interactions within this ecosystem remains poorly understood, with the partial exception of interactions of a metabolic nature such as competition for nutrients and production of toxic metabolites/peptides. Data suggest that physical contact between species plays a significant role in the phenotypic outcome of interspecies interactions.

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Probiotics are widely used in broiler chickens to support the gut microbiome, gut health, and to reduce the amount of antibiotics used. Despite their benefits, there is concern over their ability to carry and spread antimicrobial resistance genes (ARGs), posing a significant public health risk. This study utilized next-generation sequencing to investigate ARGs in probiotics approved for poultry, focusing on their potential to be transferred via mobile genetic elements such as plasmids and phages.

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In all organisms, regulation of gene expression must be adjusted to meet cellular requirements and frequently involves helix-turn-helix (HTH) domain proteins. For instance, in the arms race between bacteria and bacteriophages, rapid expression of phage anti-CRISPR (acr) genes upon infection enables evasion from CRISPR-Cas defence; transcription is then repressed by an HTH-domain-containing anti-CRISPR-associated (Aca) protein, probably to reduce fitness costs from excessive expression. However, how a single HTH regulator adjusts anti-CRISPR production to cope with increasing phage genome copies and accumulating acr mRNA is unknown.

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Background: In South Africa, an estimated 11% of the population have high alcohol use, a major risk factor for TB. Alcohol and other substance use are also associated with poor treatment response, with a potential mechanism being altered TB drug pharmacokinetics.

Objectives: To investigate the impact of alcohol and illicit substance use on the pharmacokinetics of first-line TB drugs in participants with pulmonary TB.

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Article Synopsis
  • Effective strategies for early detection of epithelial ovarian cancer are currently insufficient; this study assessed a panel of 14 circulating microRNAs to differentiate between ovarian cancer cases diagnosed less than 2 years and those diagnosed 2-7 years after serum collection.
  • The study involved 80 ovarian cancer cases and used the XGBoost algorithm to create a binary classification model, training it on 70% of the data and testing it on the remaining 30%.
  • Results showed the microRNA panel performed well, with a median AUC of 0.771, and identified four specific miRNAs that were significantly upregulated closer to the diagnosis, indicating potential for robust early detection of ovarian cancer.
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Renal cell carcinoma is a highly vascular tumor associated with vascular endothelial growth factor (VEGF) expression. The Vascular Endothelial Growth Factor -2 (VEGF-2) and its receptor was identified as a potential anti-cancer target, and it plays a crucial role in physiology as well as pathology. Inhibition of angiogenesis via blocking the signaling pathway is considered an attractive target.

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We have previously identified increased levels of distinct bacterial taxa within mucosal biopsies from colorectal cancer (CRC) patients. Following prior research, the aim of this study was to investigate the detection of the same CRC-associated bacteria in fecal samples and to evaluate the suitability of fecal samples as a non-invasive material for the detection of CRC-associated bacteria. Next-generation sequencing (NGS) of the 16S ribosomal RNA (rRNA) V4 region was performed to evaluate the detection of the CRC-associated bacteria in the fecal microbiota of cancer patients, patients with adenomatous polyp and healthy controls.

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Motivation: Human epidermal growth factor receptor 2 (HER2) status identification enables physicians to assess the prognosis risk and determine the treatment schedule for patients. In clinical practice, pathological slides serve as the gold standard, offering morphological information on cellular structure and tumoral regions. Computational analysis of pathological images has the potential to discover morphological patterns associated with HER2 molecular targets and achieve precise status prediction.

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  • The study focused on characterizing a common bacterial pathogen found in beef and its products using whole-genome sequencing (WGS) on 24 isolates.
  • The most prevalent sequence type was identified as ST204, along with several others, and many isolates carried genes related to virulence and antibiotic resistance.
  • Key findings emphasized the potential risk this bacterium poses to public health due to its presence in food environments, highlighting both its virulence factors and environmental resistance traits.
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Raw milk and dairy products can serve as potential vectors for transmissible bacterial, viral and protozoal diseases, alongside harboring antimicrobial-resistance genes. This study monitors the changes in the antimicrobial-resistance gene pool in raw milk and cheese, from farm to consumer, utilizing next-generation sequencing. Five parallel sampling runs were conducted to assess the resistance gene pool, as well as phage or plasmid carriage and potential mobility.

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This study proposes a novel approach to studying severe acute respiratory syndrome coronavirus 2 virus mutations through sequencing data comparison. Traditional consensus-based methods, which focus on the most common nucleotide at each position, might overlook or obscure the presence of low-frequency variants. Our method, in contrast, retains all sequenced nucleotides at each position, forming a genomic matrix.

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hictk: blazing fast toolkit to work with .hic and .cool files.

Bioinformatics

July 2024

Department of Biosciences, University of Oslo, Oslo 0316, Norway.

Motivation: Hi-C is gaining prominence as a method for mapping genome organization. With declining sequencing costs and a growing demand for higher-resolution data, efficient tools for processing Hi-C datasets at different resolutions are crucial. Over the past decade, the .

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Overcoming colonialism in pathogen genomics.

Lancet Digit Health

July 2024

Department of Paediatrics and Child Health, Faculty of Health Sciences, Medical College, The Aga Khan University, Karachi, Pakistan; CITRIC Centre for Bioinformatics and Computational Biology, The Aga Khan University, Karachi, Pakistan.

Historical legacies of colonialism affect the distribution and control of scientific knowledge today, including within the pathogen genomics field, which remains dominated by high-income countries (HICs). We discuss the imperatives for decolonising pathogen genomics, including the need for more equitable representation, collaboration, and capacity-strengthening, and the shared responsibilities that both low-income and middle-income countries (LMICs) and HICs have in this endeavour. By highlighting examples from LMICs, we illuminate the pathways and challenges that researchers in LMICs face in the bid to gain autonomy in this crucial domain.

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  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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  • Major depressive disorder (MDD) and cardiovascular disease (CVD) often occur together, leading to increased health issues and mortality rates.
  • A study discovered that many genetic risk factors for CVD overlap with those for MDD, indicating a shared biological basis, particularly involving specific brain regions and cell types.
  • The findings suggest that genetic predisposition to MDD can increase the risk of developing CVD, while lifestyle and metabolic factors also play significant roles, potentially creating an immunometabolic subtype of MDD more closely linked with CVD.
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Introduction: Whereas (GCC)-repeats are overrepresented in genic regions, and mutation hotspots, they are largely unexplored with regard to their link with natural selection. Across numerous primate species and tissues, SMAD9 (SMAD Family Member 9) reaches highest level of expression in the human brain. This gene contains a (GCC)-repeat in the interval between + 1 and + 60 of the transcription start site, which is in the high-ranking (GCC)-repeats with respect to length.

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A Short History of B-Cell HLA Epitopes.

Transfus Med Hemother

June 2024

Laboratory for Transplantation Immunology, University Hospital Leipzig, Faculty of Medicine Leipzig, Leipzig, Germany.

Background: HLA epitopes are currently in the focus of transplantation immunogenetics. The main reason is the complexity of the HLA system with >38,000 alleles, the number of which increases steadily. These alleles are determined by the current state-of-the art typing methods like second- and third-generation sequencing.

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A Systematic Bioinformatics Approach for Mapping the Minimal Set of a Viral Peptidome.

Curr Protoc

June 2024

Centre for Bioinformatics, School of Data Sciences, Perdana University, Kuala Lumpur, Malaysia.

Sequence changes in viral genomes generate protein sequence diversity that enables viruses to evade the host immune system, hindering the development of effective preventive and therapeutic interventions. The massive proliferation of sequence data provides unprecedented opportunities to study viral adaptation and evolution. An alignment-free approach removes various restrictions posed by an alignment-dependent approach for studying sequence diversity.

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Partitioning variance in cortical morphometry into genetic, environmental, and subject-specific components.

Cereb Cortex

June 2024

Center for Multimodal Imaging and Genetics, University of California, San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093, USA.

The relative contributions of genetic variation and experience in shaping the morphology of the adolescent brain are not fully understood. Using longitudinal data from 11,665 subjects in the ABCD Study, we fit vertex-wise variance components including family effects, genetic effects, and subject-level effects using a computationally efficient framework. Variance in cortical thickness and surface area is largely attributable to genetic influence, whereas sulcal depth is primarily explained by subject-level effects.

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Objective: In a cooperative study of the University Hospital Leipzig, University of Leipzig, and the Charité Berlin on kidney transplant patients, we analysed the occurrence of HLA-specific antibodies with respect to the HLA setup of the patients. We aimed at the definition of specific HLA antigens towards which the patients produced these antibodies.

Methods: Patients were typed for the relevant HLA determinants using mainly the next-generation technology.

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A spatial portrait of the human sebaceous gland transcriptional program.

J Biol Chem

July 2024

Institute of Veterinary Physiology, Veterinary Faculty, University of Leipzig, Leipzig, Germany. Electronic address:

Article Synopsis
  • Sebaceous glands and their secretion, sebum, are crucial for skin health and function, and issues with these glands can lead to skin problems like acne.
  • Recent research reveals that sebum not only plays a role in skin health but also has potential impacts on immune functions and overall body metabolism.
  • The study provided detailed insights into the different stages of sebocyte (sebaceous gland cell) differentiation using advanced techniques and validated their findings through comparison with existing data, paving the way for new avenues in skincare and treatment research.
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Data Harmonization Guidelines to Combine Multi-platform Genomic Data from Admixed Populations and Boost Power in Genome-Wide Association Studies.

Curr Protoc

June 2024

DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.

Data harmonization involves combining data from multiple independent sources and processing the data to produce one uniform dataset. Merging separate genotypes or whole-genome sequencing datasets has been proposed as a strategy to increase the statistical power of association tests by increasing the effective sample size. However, data harmonization is not a widely adopted strategy due to the difficulties with merging data (including confounding produced by batch effects and population stratification).

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While genome-wide association studies are increasingly successful in discovering genomic loci associated with complex human traits and disorders, the biological interpretation of these findings remains challenging. Here we developed the GSA-MiXeR analytical tool for gene set analysis (GSA), which fits a model for the heritability of individual genes, accounting for linkage disequilibrium across variants and allowing the quantification of partitioned heritability and fold enrichment for small gene sets. We validated the method using extensive simulations and sensitivity analyses.

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