Search the literature by keyword, topic, or author. Filter to articles with full text available.
3689 results
The accuracy of spatial gene expression profiles generated by probe-based in situ spatially resolved transcriptomic technologies depends on the specificity with which probes bind to their intended target gene. Off-target binding, defined as a probe …
Read PDF<h4>Background</h4>Sudden cardiac death (SCD) is a major cause of premature and potentially avoidable mortality. Determining whether a SCD was caused by an inherited cardiac condition (ICC) enables identification and appropriate clinical management of at-risk relatives. …
Read PDFPharmacogenomics AI offers significant potential for individualized drug therapy; however, its clinical benefits remain unevenly distributed. Models trained predominantly on European-ancestry data consistently underperform in non-European populations, with polygenic risk scores (PRS) showing an estimated …
Read PDF<h4>Objective</h4>To support a nationally representative group of Australians to make informed, reasoned recommendations on the use of genomics in newborn screening programmes.<h4>Design</h4>Hybrid Citizens' Jury method.<h4>Setting, participants</h4>Thirty Australian adults recruited by random ballot invitation and stratified …
Read PDF<h4>Background</h4>Beetles (Coleoptera) display exceptional dietary diversity and occupy a wide range of ecological niches, often involving close associations with plants and microbes. Ambrosia beetles (Curculionidae; Scolytinae and Platypodinae) exemplify ecological specialization by cultivating mutualistic fungi …
Read PDF<h4>Background</h4>Leukodystrophies are a clinically and genetically heterogeneous group of diseases characterized by white matter abnormalities on brain magnetic resonance imaging. Clinical, biochemical, molecular, and/or neuroimaging findings collectively support the diagnosis confirmation. The heterogeneous and overlapping …
Read PDFThe Fabaceae encompasses key agricultural species such as soybean, barrel medic (Medicago), and common bean, which are valued for their contributions to global food security and their ability to perform symbiotic nitrogen fixation. Although substantial …
Read PDFIndigenous communities are under-represented in genomics research, contributing to inequitable health-related knowledge, outcomes, and benefits. Under-representation reflects enduring consequences of colonial research practices that have engendered cultural, ethical, legal, and social (CELS) concerns among communities. …
Read PDF<h4>Background</h4>Head and neck squamous cell carcinoma (HNSC) exhibits substantial prognostic and microenvironmental heterogeneity. However, the integrated prognostic relevance of synergistic immune and inflammatory signatures in HNSC remains fully elucidated.<h4>Methods</h4>Weighted gene coexpression network analysis (WGCNA) was …
Read PDFMaternal and neonatal health (MNH) urgently requires precision medicine interventions, as morbidity, mortality, and health disparities hinder the achievement of Sustainable Development Goal 3. Clinical implementation of artificial intelligence (AI)-powered Pharmacogenomics (PGx) requires validated, transparent …
Read PDFWaterborne pathogens, particularly <i>Cryptosporidium</i>, pose a growing public-health risk in Australia and globally. Cryptosporidiosis notifications have increased markedly in recent years across multiple countries, driven by greater recreational water exposure, human mobility and climate variability. …
Read PDFFungi represent one of the most diverse groups of organisms on Earth, playing fundamental roles in ecosystems, agriculture, and biotechnology [...].
Read PDFAdvanced genomic technologies are revolutionizing our ability to understand complex diseases. Large-scale population studies are needed to realize the potential of using individual genetic information to personalize treatments for better patient outcomes for chronic non-communicable …
Read PDF<h4>Background and aims</h4>The rapid growth of genomics in healthcare has led to significant advances, and the integration of genetic information into clinical and patient education among nursing students during their training years is crucial to …
Read PDF<h4>Objectives</h4>Enabling the unambiguous communication of cancer genetic testing results and the corresponding therapeutic implications of identified genetic variants is of major clinical importance. In this report, we assess the adequacy of the Health Level Seven …
Read PDF