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Chromosome-level assembly of spotted steed (Hemibarbus maculatus Bleeker, 1871) genome
Spotted steed (Hemibarbus maculatus Bleeker, 1871), a small and medium-sized benthic fish, is widely distributed between the Yangtze and Heilongjiang River basins and is considered to be one of the most widely distributed freshwater fish …
Read PDFPediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report
<h4>Rationale</h4>Primary ciliary dyskinesia (PCD) is easily underdiagnosed in children without laterality defects. We report 2 pediatric cases of PCD, highlighting a candidate pathogenic synonymous RSPH4A variant and a possible modifier effect of NFE2L2 on DNAH9-related …
Read PDFGenomic Medicine Among Ophthalmologists: Knowledge, Current Practice, and Barriers
<b>Background/Objectives</b>: To assess the knowledge, attitudes, and practices of ophthalmologists in Saudi Arabia towards genomic medicine and genetic testing, in light of the growing significance of genomics in ophthalmology and the national transition towards precision …
Read PDFPeanut genome resource: a functional genomics platform for Arachis hypogaea
Peanut is a vital oilseed legume with considerable nutritional and economic value worldwide. Considering the global agricultural importance of this legume, researchers have sequenced the whole genomes of both wild and cultivated peanut varieties. Furthermore, …
Read PDFPersonalized prevention for all: changing how we approach the future of prevention
Advances in genomics, informatics, and artificial intelligence (AI) are reshaping preventive medicine by enabling risk-stratified, personalized approaches to disease prevention. This paper argues for a systemic transformation in US health care policy to support equitable …
Read PDFThe expanding role of artificial intelligence in personalised medicine: from innovation to individualized care
Artificial intelligence (AI) has become a transformative force in precision medicine, enabling unprecedented personalization of healthcare therapies via sophisticated computational analysis of complex biomedical data. This review examines the evolving landscape of AI applications in …
Read PDFImproving nursing students' clinical experience with genetics: the influence of prior knowledge and leadership support through the Donabedian Model
BACKGROUND: As advancements in genetics and genomics continue to evolve, nursing students need to be equipped with prior knowledge and academic leadership support (ALS) to interpret genetic information, educate patients, and participate in clinical decision-making. …
Read PDFStrategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile
<h4>Purpose</h4>Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative motor neuron disease (MND) with heterogeneity in disease onset, progression and treatment response. The Strategic ALS Australia-Systems Genomics Consortium (SALSA-SGC) was established in recognition of the …
Read PDFPathogenicity and Virulence of <i>Fusarium oxysporum</i> f. sp. <i>vasinfectum</i> Race 4: Understanding an Emerging Threat to Cotton from Field to Genome
<i>Fusarium oxysporum</i> f. sp. <i>vasinfectum</i> race 4 (<i>Fov</i>4) is a highly virulent pathogen threatening cotton production globally, particularly in the US. This review synthesizes current knowledge of <i>Fov</i>4 biology, pathogenesis, and genomic features that drive …
Read PDFFOCU.SE trial: a nationwide Swedish drug repurposing protocol and research framework
No abstract available.
Read PDFHarnessing the power of virtual reality technology to enhance public health genomics skills in Africa
Africa must sustainably bridge the public health genomics skills gap to build a workforce that responds with speed, quality, and scale. Virtual reality offers a novel and cost-effective solution to address this gap, but its …
Read PDFGenome Wide Identification and Characterization of <i>BrE2F</i> Family Gene of <i>Brassica rapa</i>
The <i>E2F</i> family gene is one of the most important G<sub>1</sub>-S checkpoint regulatory transcription factors to monitor and regulate the accurate DNA replication and progression of the cell cycle in eukaryotes. Expression of this gene …
Read PDFDiscovery of Structurally Distinct Covalent KRAS G12C Inhibitor Scaffolds Through Large-Scale In Silico Screening and Experimental Validation
<b>Background/Objectives:</b> KRAS G12C mutations define a clinically actionable subset of solid tumors, particularly non-small cell lung cancer. Clinical responses to approved covalent inhibitors remain limited by intrinsic and acquired resistance, highlighting the need for structurally …
Read PDFAlport Syndrome-Associated Pathogenic <i>COL4A4</i> Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis
<h4>Background</h4>Pathogenic variants in the <i>COL4A4</i> gene lead to Alport syndrome, a hereditary kidney disorder characterized by deficiencies in the glomerular basement membrane (GBM), progressive renal failure, and associated visual and auditory dysfunctions.<h4>Objective</h4>This study is aimed …
Read PDFDuplicate, diversify, repeat: The evolution of NOTCH2NL
Segmental duplications are key drivers of evolutionary innovation but are also particularly challenging to study. In this issue, Real et al. resolve the genetic diversity, structural history, and regulatory landscape of the human-specific NOTCH2NL gene …
Read PDFGenomic signatures of population isolation in an endangered European rodent
<h4>Background</h4>The garden dormouse (Eliomys quercinus) is one of the fastest-declining mammals in Europe, and action is needed to prevent further population losses. The primary causes of declines are not well-understood, as the species experiences variable …
Read PDFDraft genome sequence of <i>Streptomyces</i> sp. MNU76, isolated from Indus River sediment, reveals uncharacterized biosynthetic gene clusters
Here, we present the draft genome sequence of <i>Streptomyces</i> sp. MNU76 isolated from river sediment. The genome comprises 37 contigs, 10.5 Mb in size, and 71% GC content. The species harbors multiple predicted biosynthetic gene …
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