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Genome Analysis Toolkit (GATK) is a rigorously maintained collection of 430 analysis tools and a core bioinformatics engine. First released in 2010 as a toolkit for next-generation sequencing (NGS) data analysis, GATK remains one of …
Read PDF[This corrects the article DOI: 10.3389/fvets.2026.1744053.].
Read PDFNext-generation sequencing (NGS) library preparation is a core component of precision genomics, but it is commonly constrained by inefficiency, variability, and low throughput of manual protocols. To address these limitations, we developed and systematically evaluated …
Read PDFVariants in the <i>Glucokinase Regulator</i> (<i>GCKR</i>) gene are increasingly being detected with growing applications of genomic sequencing technologies. Despite the crucial roles of the <i>GCKR</i> gene in energy homeostasis, the clinical applications of <i>GCKR</i> variants …
Read PDFAfrica bears a disproportionate burden of infectious disease outbreaks and antimicrobial resistance, compounded by weaknesses in public health laboratory systems. In line with its mandate to safeguard public health, the Africa Centres for Disease Control …
Read PDF<b>Background:</b> Conventional electrocardiography (ECG) analysis faces a persistent dichotomy: Expert-defined features provide interpretability but are limited in capturing latent high-dimensional patterns, whereas deep learning approaches achieve strong predictive performance but often lack interpretability and require …
Read PDF<h4>Objectives</h4>This research explored a cross-country comparison of qualitative and quantitative data assessing the experiences of prenatal genomic healthcare professionals (HCP) in Australia and the Netherlands.<h4>Method</h4>The interview script included open-ended questions on work experience, validated scales …
Read PDF<h4>Backgroud</h4>Pathogenic NR0B1 variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype-phenotype variability persists.<h4>Results</h4>In a Chinese four-generation pedigree, two affected males carried a novel NR0B1 frameshift, c.573_576dup4 (p.T193Gfs*13). Segregation showed …
Read PDFProbiotics are live microorganisms that have been widely investigated for their association with beneficial host outcomes, particularly in the context of gut-associated microbial communities. Despite extensive literature, the probiotic effects are recognized as strain-specific and …
Read PDFComorbid nutritional disorders can present with clinical management challenges. Phenylalanine hydroxylase (PAH) deficiency and celiac disease are both associated with dietary protein intolerance, yet they are different disorders. Phenylalanine hydroxylase deficiency is a rare genetic …
Read PDFThe Special Issue entitled "Repetitive DNA" highlights the growing recognition that repetitive sequences are fundamental components of genome biology [...].
Read PDF<h4>Background</h4>Multimodal AI integration across genomics, radiomics, and pathomics is rapidly evolving in oncology, but evidence remains heterogeneous and unevenly distributed across modalities.<h4>Objective</h4>To map empirical studies integrating two or more -omic modalities, summarize integration and validation …
Read PDFWith advanced tools and techniques, it is now possible to genetically diagnose an increasing number of individuals with rare diseases for which no disease-modifying treatment exists. For a subset of affected individuals, it is possible …
Read PDFDespite advances in next-generation sequencing and optical genome mapping, conventional cytogenetics, particularly karyotyping, remain indispensable in modern medical genomics. It continues to provide critical diagnostic value in constitutional and hematological disorders, offering cost-effective detection of …
Read PDF<h4>Purpose</h4>Clinical genomic profiling of tumors identifies therapeutic targets, while germline pharmacogenomics (PGx) guides drug dosing and toxicity avoidance. However, the combined clinical landscape of both somatic and germline actionable variants across cancers has not been …
Read PDFStudent navigation through a PhD Program is marked by intellectual challenges, emotional fluctuations, and personal growth. Students develop excellence by absorbing and adjusting, recovering, and improving in response to challenges. The ability to bounce back …
Read PDFBACKGROUND: Recently, the association of IGFBP-3 polymorphism and cancer risk has attracted many attentions. Previous studies have shown that IGFBP-3 rs2854744 was associated with cancer, but the results were conflicting. METHOD AND RESULTS: We performed …
Read PDFGenomics, including all molecular omics, is driven by molecular data, while phenomics and enviromics rely on phenotypic and environmental data. Yet phenotyping is often conducted under poorly characterized environments, limiting the interpretation of phenotypic variation …
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