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Causal Effects of Yogurt Intake on Gut Microbiota: A European Mendelian Randomization Study
<h4>Background</h4>Yogurt is reported to maintain the balance of gut microbiota and prevent disease, but the causal relationship remains unclear.<h4>Methods</h4>We selected data from UK Biobank and MiBioGen to perform Mendelian randomization analysis. MR Egger, inverse variance …
Read PDFPan-Cancer Pre-Treatment ctDNA Detection Using a Highly Sensitive Tumor-Informed Assay
Circulating tumor DNA (ctDNA) has many potential applications in the management of cancer, including detection, monitoring, and treatment response assessment. This study evaluates pre-treatment ctDNA detection in a single-institution pan-cancer cohort using a highly sensitive …
Read PDFEditorial for the Special Issue "Microbial Solutions for Sustainable Resource Recovery and Environmental Remediation"
In response to the triple crises of global resource depletion, escalating waste generation, and environmental pollution, microorganisms are increasingly transitioning from basic research to engineering applications, driven by their metabolic diversity, robust environmental adaptability, and …
Read PDFThe genomics of insecticide resistance in Anopheles funestus: insights from a large bed-net trial
In response to the emerging threat of insecticide resistance in malaria vectors, insecticides are being repurposed for vector control or developed de novo. The longevity of disease control programs will require stewardship of these tools, …
Read PDFReport of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline <i>NF1</i> Pathogenic Variants
Neurofibromatosis 1 (NF1) is one of the most common genetic diseases of the central nervous system. The nature of intracranial lesions that are associated with NF1 are yet to be fully defined. Arachnoid, velum interpositum, …
Read PDFBuilt environment is a key driver of cardiometabolic health in two Indigenous groups undergoing rapid lifestyle change
<h4>Background</h4>Globally, subsistence-level societies are experiencing rapid urbanization and concomitant increases in cardiometabolic diseases. Generalized measures to quantify lifestyle transitions will facilitate the identification of the most potent drivers of changing health within and between populations, …
Read PDFThe Donkey Genome: From Evolutionary Insights to Sustainable Breeding Strategies
Donkeys (<i>Equus asinus</i>) are economically and ecologically important livestock species whose genetic potential remains underexplored. This review synthesizes recent advances in donkey genomics, tracing their evolutionary history while evaluating current applications in selective breeding, conservation …
Read PDFReply to Sangster, G.; Luksenburg, J.A. Contamination of Consensus Sequences in Next-Generation Mitogenomics: The Published Mitochondrial Genome of <i>Haliastur indus</i> Is a Chimera with DNA from <i>Butastur indicus</i>. Comment on "Sonongbua et al. Insights into Mitochondrial Rearrangements and Selection in Accipitrid Mitogenomes, with New Data on <i>Haliastur indus</i> and <i>Accipiter badius poliopsis</i>. <i>Genes</i> 2024, <i&
We thank Dr. George Sangster and Dr. Jolanda A. Luksenburg for their careful assessment concerning the mitochondrial genome sequence of <i>Haliastur indus</i> (GenBank accession number: OP133375.1) [...].
Read PDFA single genomic region controls primocane fruiting in tetraploid blackberry
The fresh-market blackberry (Rubus subgenus Rubus) industry has expanded dramatically in the past 2 decades, driven in part by improved cultivars. Introgression of the primocane-fruiting (PF; annual flowering) trait into elite germplasm has enabled dual …
Read PDFDistinct genomic architectures but the same gene underlie the convergent evolution of a plant supergene
Evolution reflects a balance between innovation and constraint, often repurposing existing components in new contexts. Convergent evolution exemplifies this interplay, with similar traits evolving independently in different species, yet the genomic mechanisms enabling this repeatability …
Read PDFNewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
<h4>Introduction</h4>Newborn bloodspot screening (NBS) is freely and universally available to babies born in Australia, with nearly 300 000 newborns screened each year. The NBS programme screens for approximately 30 conditions; however, there are hundreds of …
Read PDFGenomic analysis of <i>Salmonella</i> Typhi from a typhoid conjugate vaccine trial
<b>Background.</b> <i>Salmonella enterica</i> serovar Typhi (<i>S</i>. Typhi), the causative agent of typhoid fever, continues to pose a major public health challenge in many low- and middle-income countries. The World Health Organization recommended typhoid conjugate vaccine …
Read PDFA homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation
Congenital disorders of glycosylation (CDGs) are a phenotypically diverse group of genetic conditions arising from pathogenic variants in various glycosylation pathways. The most prevalent are N-glycosylation disorders. Here, we present clinical and biochemical data on …
Read PDFGENEKIDS-PRO: genomic enhancement and patient engagement in nephrology through multidisciplinary kidney genetics clinic implementation and integration in Singapore - a study protocol using a process evaluation framework
BACKGROUND: Genetic nephrology has emerged as a distinct subspecialty within nephrology with growing evidence supporting its clinical utility and cost-effectiveness across diagnostic, prognostic, and management pathways. Yet significant implementation gaps such as undefined clinic models …
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