Getting a π Right: Toward Reproducible Population Genomic Summary Statistics
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Evaluation of an education intervention to support genomics research participation: a community-based pre-post study among participants under-represented in diabetes genomics research
<h4>Objective</h4>Develop and study a culturally tailored genomics education tool to better inform future consent processes for genomics research participation among a medically underserved population with diabetes.<h4>Design</h4>A single-arm, cohort pre/postsurvey study to assess an educational intervention …
Read PDFArtificial Intelligence in genomics: a comprehensive survey of methods, resources, challenges, and prospects
Artificial intelligence (AI) is reshaping genomics by enabling unprecedented insights into disease mechanisms, therapeutic design, and precision medicine. This review provides a comprehensive survey of cutting-edge AI methodologies, including machine learning, deep learning (DL), natural …
Read PDFBeyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction
Recent advances in forensic genetics are rapidly transforming the field from traditional DNA profiling toward integrative and predictive genomic approaches. While short tandem repeat (STR)-based typing remains the gold standard for human identification, emerging technologies …
Read PDF2026 Bundibugyo virus outbreak: the role of genomics in <i>Orthoebolavirus</i> outbreaks
Central Africa is currently experiencing its third recorded outbreak of Bundibugyo virus, one of three orthoebolaviruses capable of causing lethal haemorrhagic fevers in humans with person-to-person transmission. The first genomes from this outbreak have been …
Read PDFDeveloping general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol
<h4>Introduction</h4>This project will establish a nationally consistent and ethically defensible approach to embed genomic testing in Australian primary care. Many non-genetic health professionals (eg, general practitioners (GPs) and other specialists) have limited experience with such …
Read PDFA novel encryption protocol for facilitating de-identification of genomics health data
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Read PDFThe Clinical Pathway Initiative: Identifying role relevant competencies in genomic pathways
Mainstreaming genomic medicine creates the challenge of ensuring confidence and competence in the healthcare workforce. The Clinical Pathway Initiative (CPI), led by the NHS Genomics Education Programme, maps competencies and educational resources to clinical pathways …
Read PDFCorrection to "Population Genomics Informs Conservation Strategies for Critically Endangered <i>Kokia</i> Species in Hawai'i"
[This corrects the article DOI: 10.1002/ece3.73104.].
Read PDFWhen genomics meets geopolitics
International genomic collaboration is being reorganised under growing pressure from data sovereignty, geopolitical scrutiny, and demands for fairer benefit-sharing. This Comment uses BGI Group, formerly known as the Beijing Genomics Institute, as a geopolitically salient …
Read PDFAdvancing global genomic equity: making a case for national genome projects in Africa
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Read PDFA bioinformatics and experimental study toward new therapeutic strategies: CXCL8 in gout progression
Gout is a chronic inflammatory disease driven by hyperuricemia and recurrent immune activation. However, gout may occur in the absence of elevated serum uric acid levels, which complicates clinical diagnosis and highlights the need for …
Read PDFApplication of qualifying variants for genomic analysis
<h4>Motivation</h4>Qualifying variants (QVs) are genomic alterations selected by defined criteria within analysis pipelines. Although crucial for both research and clinical diagnostics, QVs are often seen as simple filters rather than dynamic elements that influence the …
Read PDFTerminatorNet: comprehensive identification of intrinsic transcription terminators in bacteria
<h4>Motivation</h4>The primary mechanism for transcription termination in bacteria is intrinsic terminators. These terminators influence transcript stability and play key roles in gene regulation. Existing computational methods for genome-wide terminator identification have been designed and evaluated …
Read PDF<i>PyCycleBio</i>: modelling non-sinusoidal-oscillator systems in temporal biology
<h4>Motivation</h4>Protein, mRNA, and metabolite abundances can exhibit rhythmic dynamics, such as during the day-night cycle. Leading bioinformatics platforms for identifying biological rhythms often utilize single-component models of the harmonic oscillator equation, or multi-component models based …
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