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BACKGROUND: Y chromosome genetic markers, with strict paternal inheritance and lack of recombination, are particularly valuable tools for tracing male lineages. They complement autosomal analyses in forensic applications and anthropological inference by increasing resolution for …
Read PDFGenomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-up, data silos, cost, …
Read PDFThis study reports the draft genome sequence of <i>Enterobacter hormaechei</i> ML02, isolated from mangrove-associated rhizosphere soil in Bangladesh. The assembled genome is 4,874,798 base pairs in length, distributed across 80 contigs, with a GC content …
Read PDFThe ectomycorrhizal fungus <i>Laccaria bicolor</i> is a key symbiotic mutualist in forest ecosystems, where it enhances nutrient uptake and promotes the growth of host trees. Here, we present genome assemblies of 14 geographically distinct strains …
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Read PDF<h4>Background</h4>Laryngeal cancer (LC) is a common malignant tumor. Telomere-related genes (T-RGs) play critical roles in cellular senescence and carcinogenesis, but their prognostic relevance in LC remains to be fully elucidated. Therefore, exploring the prognostic genes …
Read PDF<i>Bordetella petrii</i> is an environmentally versatile Gram-negative bacterium with hydrocarbon-degrading capabilities, yet its genetic and metabolic characteristics remain poorly characterized. This study investigated the genomic features of a PAH-degrading <i>Bordetella petrii</i> strain P003 isolated from …
Read PDFDespite the escalating biodiversity crisis, many species remain unknown to science and may even disappear unnoticed. This is particularly true for many island populations. We illustrate the problem of detecting overlooked species and its consequences …
Read PDF<i>Streptococcus pneumoniae</i> remains a major cause of morbidity and mortality worldwide, especially among children under 5 years of age. The introduction of pneumococcal conjugate vaccines (PCVs) has significantly reduced invasive pneumococcal disease globally. Ghana introduced …
Read PDFCancer research has undergone a fundamental transformation in recent decades due to the integration of artificial intelligence (AI) models into the study of tumor biology. However, tumor evolution, driven by genetic and phenotypic alterations leading …
Read PDFPantoea agglomerans is a Gram-negative bacterium increasingly recognised as an opportunistic pathogen, yet the molecular basis underpinning its host-interaction capacity remains poorly understood. Here, we report the whole-genome sequencing and integrative characterisation of P. agglomerans …
Read PDFBACKGROUND: Dopa-responsive Dystonia (DRD) due to GTP cyclohydrolase 1 (GTPCH1) deficiency is a neurogenetic disorder caused by pathogenic GCH1 variants. Tetrahydrobiopterin (BH4) deficiency impairs dopamine synthesis in the basal ganglia, leading to childhood-onset dystonia with …
Read PDFModern biomedical genomics has principally centered on disease, leveraging genomic insights to identify disease-associated genotypes. While valuable, this approach is overly reliant on a positivist, disease-centric perspective that often goes hand-in-hand with patterns like deficit …
Read PDFPhage genomes integrated within bacterial genomes, known as prophages, frequently encode proteins that provide defense against further phage infection. These proteins often function by altering the cell surface and preventing phages from attaching to their …
Read PDFGenome-wide off-target effect poses a safety risk for clinical use of adenine base editor (ABE), among which ABE8e is one of the most efficient. Genome-wide off-target analysis by two-cell embryo injection (GOTI) analysis showed that …
Read PDF<h4>Objective</h4>Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non-diagnostic microarray result for …
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