Articles tagged with Genomic Analysis
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
A new editorial paper discusses molecular and cytogenetic analyses used to identify distinct subtypes of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS). Researchers found that around 15% of AML cases remain genetically unclassifiable, emphasizing the need for further research.
The Collaborative Ethics model, developed by Jeantine Lunshof and Julia Rijssenbeek, aims to address ethical implications of emerging technologies from fundamental discoveries. By integrating philosophical and ethical reassessment into research processes, the model facilitates decision points for researchers and ethicists.
A genomic analysis overturned the leading hypothesis on firefly light origin, revealing that lucibufagins, a toxic compound, evolved after bioluminescence development. Fireflies' ancestors diversified during a period of rising atmospheric oxygen levels, suggesting a similar path to glowing millipedes.
The RENEW system, launched in 2022, uses new research discoveries to pinpoint genetic variants causing rare diseases. Researchers successfully diagnosed 63 patients out of 1,066 undiagnosed cases with an average diagnosis time of 20 seconds.
Researchers found a causal link between cerebral small-vessel disease and increased risk of Alzheimer's and dementia. The study highlights the importance of white matter hyperintensity burden as a surrogate marker for clinical trials to prevent dementia.
A team of researchers, including OHIO's Nate Szewczyk and students, published a comprehensive package of papers in Nature journals that transform our understanding of human space biology. The studies reveal how molecular biology and precision medicine can guide humanity into more challenging missions beyond Earth.
A new, streamlined urine DNA test detects primary bladder cancer more accurately than current methods, potentially reducing the need for invasive cystoscopy. The test shows high sensitivity and specificity, even for detecting high-grade noninvasive papillary carcinoma.
The introduction of Nile perch to Lake Victoria led to severe population loss and genetic bottlenecks in local cichlid species. The study reveals that four species experienced a 'bottleneck event' resulting in reduced genetic diversity, highlighting the devastating impact of exotic species invasion.
A new machine-learning model using serum fusion-gene levels predicts HCC with an accuracy of 83-91%, significantly improving upon current biomarkers like serum alpha-fetal protein. This breakthrough tool may help identify patients at risk and monitor cancer recurrence, leading to improved survival rates.
Researchers have characterized the diversity of DNA transposons and expanded the genome engineering toolbox. They identified 40 novel transposons with activity in human cells, significantly expanding their evolutionary diversity.
Researchers identified an ideal small-grain gene, GSE3, and used CRISPR-Cas9 technology to edit it in male sterile lines, achieving fully mechanized hybrid seed production. This breakthrough enables significant yield improvements and enhances food security.
Researchers found that snails from tidal areas developed stronger circatidal rhythms compared to those in nontidal regions. The study suggests that environmental adaptations can influence the expression of genes controlled by biological clocks, leading to potential changes in physiological processes.
A new Research Training Group will investigate the evolution of nuclear genomes in organisms using different forms of reproduction, including asexual and sexual reproduction. The group aims to better understand the dominance of sexual reproduction in nature through empirical analysis of changing and evolving genomes.
A genomic study of over 5,000 veterans with advanced prostate cancer reveals significant differences in frequencies of alterations associated with race and ethnicity. Alterations in immunotherapy targets were more common in Black veterans, potentially leading to opportunities for precision-based therapy.
Researchers found that anglerfish's unique sexual parasitism helped them adapt to the deep sea during a time of global warming. This trait allowed for successful reproduction and diversification in the 'midnight' zone.
Researchers analyzed historical milk samples from the 1940s and found that some were resistant to tetracycline antibiotics, defying the conventional understanding of antibiotic resistance. The discovery adds to the growing body of literature on natural antibiotic resistance occurring before humans began using antibiotics.
Researchers from Queen Mary University of London reveal that baobab trees originated in Madagascar before traveling to Africa and Australia, where they evolved unique pollination mechanisms. The study provides new insights into how climate change has influenced baobab distribution and speciation patterns over millions of years.
A new study analyzed 500,000 individuals and found a strong statistical association between rDNA copy number and well-established markers of systemic inflammation, as well as kidney function. The research suggests that wider genome analysis could bring opportunities for preventative diagnostics and novel therapeutics.
A team from Korea University College of Medicine has discovered the evolutionary process of glioblastoma recurrence through proteogenomic analysis, providing potential therapeutic avenues. They found that recurrent tumors undergo neuronal transition and BRAF protein kinase activation, leading to resistance to standard treatments.
Researchers analyzed genome of Oikopleura dioica, finding it has wildly different languages despite identical physical characteristics. The 'scrambling' phenomenon suggests genes are regulated differently, challenging assumptions about species identity.
Climate change threatens freshwater habitats, disrupting microbial communities essential for nutrient cycling and water quality maintenance. Many abundant freshwater bacteria with small genomes experience extended periods of adaptive standstill, limiting their ability to adapt to changing environmental conditions.
Researchers used advanced gene network analysis to decode Campylobacter jejuni's complex genetic network and understand its role in antimicrobial resistance. The study identified hub genes and functional relationships that could serve as potential drug targets for combating antibiotic-resistant C. jejuni infections.
Researchers created GraSSRep and rhea, tools that outperform current methods for handling repeats and structural variants in metagenomic data. These methods use self-supervised learning and graph neural networks to analyze microbiome data, offering new insights into biological processes and potential applications in antibiotic resistance.
A massive study identifies new biomarkers for renal cell carcinoma subtypes, improving diagnosis and treatment. The researchers' integrative analysis of proteogenomic datasets reveals molecular features shared by clear cell and non-clear cell RCC tumors, as well as unique features to various subtypes.
The new 'scLENS' tool overcomes challenges in single-cell transcriptomics by automatically differentiating signals from noise using Random Matrix Theory and Signal robustness test. This innovation significantly improves analysis accuracy and efficiency, enabling researchers to extract biological signals conveniently and automatically.
Using AI software called SLEAP, scientists at Salk Institute are designing climate-saving plants with optimized root systems that can store more carbon. This approach enables researchers to analyze plant features and connect desirable traits to targetable genes, accelerating the development of carbon-capturing plants.
The Hong Kong Biodiversity Genomics Consortium has launched a project to sequence the genomes of its eukaryotic biodiversity, which is rich in species but threatened by climate change. The first five genomes have been published in GigaByte Journal to coincide with International DNA Day.
Researchers at Osaka Metropolitan University developed a lysin from a bacteriophage that targets Staphylococcus hominis, a key contributor to body odor. The study's results could lead to a new treatment option for axillary odors, a common dermatological disorder.
Researchers at U of T have mapped the movement of proteins encoded by the yeast genome throughout its cell cycle, identifying patterns of emergence and disappearance or movement to specific areas. The study provides a unique dataset that offers a genome-scale view of molecular changes during cell division.
Researchers analyzed a 40-fold high-coverage genome from a historical museum specimen and found no inbreeding or detrimental mutations, indicating the species' ability to adapt to long-term low population size. The study suggests that European colonization was a key factor in the blue antelope's extinction.
The project aims to overcome limitations of conventional semen analyses by examining mitochondrial DNA levels in sperm as a novel biomarker of sperm fitness. Researchers will evaluate relationships between mtDNA biomarkers and male reproductive health using large study samples.
Two new Review articles explore AI's application in early cancer detection, highlighting its potential to enhance diagnostic accuracy and improve treatment selection. The articles emphasize the need for a robust, multi-disciplinary approach to integrate AI into medicine.
The St. Jude survivorship portal provides a rich dataset for researchers to study childhood cancer survivors, including genomic and clinical information. The portal facilitates breakthroughs in pediatric cancer survivorship research through dynamic visualization and customizable charts.
A new machine learning method called scGHOST has been introduced to identify single-cell 3D genome subcompartments and connect them to gene expression patterns. This can reveal the spatial organization of chromosomes within the nucleus, shedding light on how DNA structure influences gene expression and disease processes.
Researchers discovered that known genetic variants account for a large portion of chronic kidney diseases with unknown origin. The study found that 10% of patients had pathogenic variants in CKD-causing genes, and some hereditary renal diseases could be diagnosed and treated early on to slow down disease progression.
A frozen chunk of a bird's genome has rewritten the understanding of the bird family tree, revealing that most birds were misclassified due to suppressed recombination. Scientists discovered that one section of the genome behaved unusually, leading to incorrect groupings and a more complex tree.
OptiDrop enhances sensitivity for detecting scatter and fluorescence signals, offering rapid and cost-effective insights into genetics, proteins, and metabolites. The platform enables multiplexed fluorescence and scatter detection with unprecedented single-cell resolution using on-chip fiber optics.
Researchers reconstructed the entire evolutionary history of birds using advanced algorithms and genomic data from over 60,000 regions. The new family tree reveals patterns in avian diversification following the mass extinction event that wiped out dinosaurs.
Researchers developed a single-assay approach using exome sequencing data to detect large-scale pathogenic mutations, detecting 91 previously undetectable mutations. This shift could enable earlier diagnoses and save the NHS vital resources.
Researchers found that synbiotics, a combination of prebiotics and paraprobiotics, improved the gut microbiome of Magellanic penguins, reducing inflammation and enhancing overall health. The study also revealed that parasynbiotics can modulate inflammatory responses in penguins.
A study from USC Keck School of Medicine reveals a genetic variant on the IKZF1 gene contributing to increased risk of acute lymphoblastic leukemia among Hispanic/Latino children. The variant increases ALL risk by around 1.4 times and may be linked to Indigenous American ancestry, according to researchers.
Researchers developed an Integrated Classifier Pipeline (ICP) tool to analyze CRISPR edit outcomes and track unintended 'bystander' edits. The ICP system provides a genetic fingerprint of how material is being inherited, helping scientists untangle complex biological issues.
Scientists have mapped 87 genes associated with alterations in blood pressure and 144 genes linked to variations in heart rate. The study's findings provide new insights into the genetic determinants of cardiovascular disease and offer a promising approach for future research.
Researchers found that humans transfer viruses to domestic and wild animals at a rate twice that of animal-to-human transmission, highlighting the importance of monitoring viral exchange between species. This study's findings have significant implications for understanding zoonotic diseases and conservation efforts.
A new study has identified 17 significant genetic variants linked to Alzheimer's disease in five genomic regions. The findings highlight the value of whole genome sequencing data in gaining long-sought insight into the ultimate causes and risk factors for Alzheimer's, which is the fifth leading cause of death among people 65 and older.
NeXT Personal assay detects up to ~1,800 somatic variants specific to the patient's tumor with a detection threshold of 1.67 PPM and 99.9% specificity. The assay showed linearity over a range of 0.8 to 300,000 PPM.
Scientists at Karolinska Institutet and Stockholm University have mapped the cellular architecture of MS lesions using advanced methodology. This reveals how immune cells and glial cells interact in the disease.
Researchers found high genetic diversity in Cape lions prior to their extinction, contradicting colonial descriptions. The study suggests that the species exhibited significant phenotypic variation, including diverse mane coloration.
A new study from the University of Chicago analyzed DNA methylation in tissue samples from former smokers, finding evidence of the body's attempts to defend itself from tobacco smoke. The research team identified new regions associated with smoking and found that DNA methylation varies dramatically across cell types and tissue types.
Researchers have developed a technique to account for global changes in transcription, revealing new insights into how plants respond to environmental stimuli. By using artificial spike-ins, they found that temperature changes at different times of day affect gene expression more significantly than previously thought.
Researchers studied Prorocentrum cordatum to understand its molecular processes, revealing a unique photosynthetic machinery that may help it adapt to changing light conditions. The findings could lead to improved understanding of harmful algal blooms and their role in climate change.
Researchers analyzed Japanese wolf and dog genomes, revealing genetic distinctness from gray wolves. Japanese wolves are also linked to the origin of modern dogs in East Asia.
A team of Rice University researchers has developed a platform for integrating DNA and RNA data from single-cell sequencing with greater speed and precision. The method, MaCroDNA, relies on a classical algorithm to identify matching pairs of data and outperformed state-of-the-art technologies in accuracy measurements.
Researchers developed an oxidative stress-based prognostic model for bladder cancer, identifying distinct molecular subtypes and predicting patient outcomes. The model shows promise in tailoring personalized treatment approaches, particularly for patients with low-risk profiles.
A recent study by Pusan National University scientists discovered the crucial role of PKM gene and EPHA2 pathway in HNSCC development. The research highlights the importance of HPV infection status in shaping the tumor microenvironment, enabling precision medicine for targeted treatment.
A new study from Uppsala University found that Stone Age hunter-gatherer communities in Western Europe deliberately formed distinct families to avoid inbreeding and maintain genetic diversity. The research analyzed the genomes of several individuals buried at iconic sites in France, dating back to around 6,700 years ago.
Researchers analyzed over 200 butterfly and moth genomes to understand their evolutionary history. They found that chromosomes have remained largely unchanged since the last common ancestor over 250 million years ago, despite the diversity seen today in wing patterns and caterpillar forms.
Researchers found a decline in microbial genetic richness in the western Arctic Ocean, with subtle but statistically significant changes in community structure and function. The study suggests that warming and freshening of the ocean risks strengthening the microbial loop, potentially impacting the marine food web.
A team of researchers used biopsies from young bulls to investigate the genes and mechanisms controlling male fertility. They found a large number of genes associated with fertility in bulls, most of which are also relevant to human male fertility.
Researchers from Pusan National University discovered a link between diabetes and periodontitis, showing pro-inflammatory cytokines rise in classical monocytes. The study highlights the systemic impact of these conditions on immune regulation and suggests a potential therapeutic target to reduce diabetes risk.