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.
This special issue highlights novel applications of long-read sequencing technologies in biology and medicine, including human disease detection, rare disease diagnostics, and structural variation analysis. Several studies demonstrate the use of long-read sequencing data approaches to overcome challenges posed by repetitive regions, id...
Researchers at KAIST discovered that DDX54 is the master regulator hindering immunotherapy's effectiveness in lung cancer. Supressing DDX54 enhances immune cell infiltration into tumors and improves immunotherapy efficacy.
A recent study found that ischemic stroke mortality rates have increased in the US over the past two decades, particularly among racial minorities and rural residents. The majority of these deaths now occur at home, rather than in hospitals or medical facilities.
Researchers at UTA uncovered how the flowerpot snake repairs its DNA and prevents harmful mutations, shedding light on genetic repair mechanisms that could deepen our understanding of human gene evolution. The study also reveals surprising findings about reproductive strategies and immune-related genes in reptiles.
The study analyzed microbial communities on the China Space Station, revealing common characteristics of environmental microorganisms during long-term human residence. The findings provide a baseline for microbial safety measures and advance research consensus on microbial adaptation capabilities in space.
Researchers at MD Anderson Cancer Center made several key discoveries, including the spatial organization of cancer-associated fibroblasts across various cancers and a study on treatment resistance in SMARCA4-mutant lung cancer. These findings highlight the importance of investigating cell populations in their spatial context to better...
A team of researchers from the University of Kansas has confirmed that the Leyte Chorus Frog is a hybrid of two species with overlapping ranges whose intermingling was driven by deforestation. The discovery sheds new light on the impact of human activities on the environment and highlights the importance of conservation efforts.
Researchers identified 60 genes linked to congenital heart disease, with some also contributing to neurodevelopmental disorders like autism. The study provides new insight into the genetic architecture of CHD and has implications for prenatal screening and early risk assessment.
Researchers at ELTE have created an online database of snoRNAs in zebrafish, revealing 67 previously unknown snoRNAs and providing a comprehensive analysis of their expression during development and in adult tissues. The findings may help create better zebrafish disease models and aid understanding of complex human diseases.
Researchers found evidence of a genetic mixing event between two ancient populations around 1.5 million years ago, which contributed to the modern human species. The study suggests a more complex story of human evolution than previously thought, with different groups developing separately before reuniting.
Fiji iguanas are most closely related to North American desert iguanas, with a lineage that split around 30 million years ago. The animals likely colonized the Pacific islands after volcanic activity produced land, and their arrival coincided with the formation of Fiji.
Researchers at MD Anderson have made significant breakthroughs in understanding pancreatic cancer's evolutionary process and developing new treatment strategies. They also discovered that surgical resection can enhance antitumor response in patients receiving immune checkpoint therapy for advanced kidney cancer.
Research from the Long Life Family Study found individuals from long-lived families have significantly better vascular health than the general population. The study identified key risk factors and four genomic regions linked to PAD risk, providing novel insight into underlying mechanisms.
Researchers discovered that sulfur bacteria from the Desulfobacteraceae family work together like a team to break down diverse organic compounds. By analyzing six strains, they found similar molecular strategies and a highly energy-efficient central metabolism pathway, enabling them to thrive in oxygen-free environments.
Researchers analyzed chloroplast genomes of cacao trees from northern Peru to determine the species' age and diversity. The study found that the current known diversity diversified during the Pliocene or Miocene epochs, approximately 7.5 million years ago.
A global genetic study has discovered new links between predicted height and diseases, including mental disorders and the endocrine system. The research used data from diverse ancestries and found significant associations that could improve early diagnosis and patient care.
Researchers developed a deep-learning framework, STAIG, to automatically map distinct genetic activity to tissue regions without manual alignment. The study demonstrates superior performance across various conditions, showcasing its potential for cancer research and understanding complex biological systems.
The Gene Ontology Consortium has published a new resource of human gene functions, combining experimental data with evolutionary modeling. The PAN-GO functionome lists known functions of over 20,000 genes, providing a complete and accurate picture of gene function.
A genetic predisposition to type II diabetes mellitus is associated with a reduced risk of esophageal cancer. Metformin use has been shown to decrease the prevalence of esophageal cancer, while insulin and gliclazide have no significant association.
Researchers analyzed phage-bacteria communities in children's stool samples to understand their role in type 1 diabetes development. They found dynamic changes in phage and bacterial populations, suggesting an 'arms race' between the two, but no clear link to disease risk.
Researchers from Cleveland Clinic’s Genome Center linked human herpesviruses to Alzheimer's disease via transposable elements. They identified TEs activated in HSV-1 infected brains and found that commercially available drugs can reverse this pathway.
New research reveals aldosterone-producing adenomas harbor at least four distinct cell types, including cortisol-producing cells that contribute to unexpected health issues. The study also identifies potential role of lipid-associated macrophages in influencing hormone production and tumor growth.
Researchers identified recent advancements in bioinformatics foundation models, enhancing understanding of molecular landscapes and providing practical foundations for innovation in molecular biology. The models are versatile and essential tools for various downstream tasks, including genomics and drug discovery.
Researchers found that Copia's capsid plays a crucial role in controlling structural synaptic plasticity at the Drosophila neuromuscular junction. The study suggests that this parasitic genome element influences neuronal communication and behavior.
Scientists have released new high-quality genome sequences for two critically endangered pangolin species, revealing genetic vulnerabilities and extinction risks. The research provides essential information for rescue operations and focusing on the best ways to conserve these unique animals.
Researchers have discovered that anemonefish have evolved to maintain very low levels of sialic acid in their skin mucus to avoid triggering the release of nematocysts in their sea anemone hosts. This adaptation allows them to safely coexist with sea anemones, which also lack these sugar compounds in their own mucus.
Researchers mapped yerba mate's genome, discovering an ancestor that duplicated its genome 50 million years ago. This event led to the evolution of caffeine biosynthesis in yerba mate and coffee through convergent pathways. The study provides opportunities for creating plant varieties with new characteristics.
Sheep have been an integral part of human livelihoods for over 11,000 years, providing meat, milk, and clothing. Genetic analyses reveal that early farmers deliberately selected their flocks for desirable traits, such as coat colour, demonstrating a significant impact on animal biology.
A study on six serodiscordant couples found that women who were immune to SARS-CoV-2 had elevated expression of the gene IFIT3 compared to their male partners. This suggests that overexpression of IFIT3 may offer protection against COVID-19 by inhibiting viral replication and preventing cell invasion.
A new study reveals that long-read sequencing can diagnose rare genetic diseases more accurately, quickly, and affordably. By analyzing longer stretches of DNA, this technology eliminates gaps and provides direct phasing data, improving the diagnostic yield of genetic sequencing.
Researchers at North Carolina State University suggest that the Irish potato famine pathogen, Phytophthora infestans, originated in the South American Andes Mountains. The study compared genetic material from P. infestans with those of close relative pathogens and found distinct differences between the two.
Researchers discovered that independent evolution of chromosome copies in oribatid mites enables genetic diversity through mechanisms like the Meselson effect and horizontal gene transfer. This approach allows for rapid adaptation to environmental changes and supports long-term survival.
A recent study by Max Planck Institute researchers analyzed Brazil Nut tree samples to understand genetic diversity and population dynamics. The findings show a drastic decline in genetic diversity over the last 20,000 years, but areas with Indigenous management exhibit more complex genetic backgrounds.
A new computational tool, PsiPartition, simplifies genetic data analysis for evolutionary biology, allowing researchers to efficiently study species relationships. The novel method improves both computational efficiency and accuracy of phylogenetic trees.
Researchers at UC San Diego developed CASTER to analyze entire genomes for species relationships and evolutionary histories across the genome. This approach provides scalable and interpretable outputs, unlocking discoveries on how evolution has shaped present-day genomes and the tree of life organization.
Researchers analyzed 101 Chinese AML samples and identified three subtypes with different molecular characteristics and clinical outcomes. The study also found potential drug combinations that could improve treatment efficacy for subtype S-II&III patients who benefited from allogenic haematopoietic stem cell transplantation.
Researchers at University of Birmingham have discovered three new protein biomarkers TFF3, LCN2, and CEACAM5 that show strong predictive potential for colorectal cancer. These biomarkers are linked to cell adhesion and inflammation, processes closely associated with cancer development.
Researchers have developed a new sorghum variant that can outperform soybeans in oil production, with great potential as a clean source of renewable fuel. The 'push-pull-protect' strategy successfully engineered sorghum lines to accumulate up to 5.5% TAG in their leaves and 3.5% dry weight in their stems under field conditions.
A European consortium has successfully diagnosed over 500 patients with unknown conditions, including rare neurological disorders and hereditary cancers. The diagnoses were made possible by extensive collaboration and reanalysis of existing genome data.
A new study identifies loss-translocation-amplification chromothripsis as a key mechanism driving osteosarcoma tumour development and evolution. This discovery has significant implications for treatment options and patient outcomes, highlighting the importance of investing in studies exploring cancer mechanisms.
This review highlights the transformative capabilities of single-cell and spatial genomics, providing critical insights into disease mechanisms and developing innovative therapies. The technologies enable comprehensive cell atlases, tracing the evolution of sequencing methods and incorporating multi-omics approaches, which significantl...
Researchers have identified a 177-gene signature common to metastasis across cancers, allowing for personalized risk assessment and potential therapies. The discovery could lead to broader treatment options, faster drug access, and improved patient outcomes.
Researchers have reconstructed the evolutionary origin of the complex configuration of multiple sex chromosomes in echidnas using their nearly gapless genome sequence. The high-quality data helped trace genetic events that led to this remarkable chromosomal arrangement, including chromosome fusion and fission events.
A new study reveals that bacteria species in Lake Mendota rapidly evolve over time, responding to changing seasonal conditions. The researchers found that hundreds of separate species would return almost fully to near copies of their genetic predecessors after a thousand or so generations of evolutionary pressures.
A special report identifies actions to enhance justice in genomics, ensuring fair access to research, promoting diversity, and protecting privacy. Researchers can reform practices that perpetuate racism, ensure disability inclusion, and democratize data sharing.
A recent study analyzed genomic variation distribution, genetic diversity, and heterotic group types in modern maize inbred lines. The research found new potential heterotic groups and identified elite breeding loci for traits like yield, plant architecture, and stress resistance.
A new system can quickly identify emerging virus variants and provide information on their genetic changes, helping to understand why they spread differently in human populations. This enables the development of more effective vaccines and targeted treatments for diseases such as flu, COVID, and tuberculosis.
A study by the National Center for Supercomputing Applications aims to create personalized nutrition plans based on an individual's unique gut microbiome. The researchers used Illinois Computes to analyze metabolomic data and develop a database of metabolites that can help diagnose diseases more efficiently.
The study traces the evolutionary history of brown algae through genomic analysis, highlighting their role in sustaining coastal habitats and combating climate change. The research also identifies practical applications in aquaculture, biotechnology, and ecosystem restoration.
A new University of Texas at Arlington study provides a comprehensive genetic map of the common bedbug Cimex lectularius, enhancing scientific investigations into pesticide resistance and developing targeted pest control strategies.
A new study found that over half of weedy rice sampled in the southeastern US has become resistant to certain herbicides, including imidazolinone and a newer class of herbicides. The researchers also discovered that individual fields have distinct compositions of weedy rice strains, making management harder.
A study found that adding anthracyclines to taxane-based chemotherapy improved survival outcomes for HR-positive, HER2-negative breast cancer patients with high risk of recurrence. The OncotypeDX genomic test helped identify which patients could benefit from the addition.
A new analysis of DNA from ancient modern humans in Europe and Asia has determined that Neanderthals interbred with modern humans from approximately 50,500 to 43,500 years ago. This period of interbreeding left Eurasians with many genes inherited from their Neanderthal ancestors.
A new study reveals insights into leveraging allele dosages in sweetpotato breeding practices to improve key agricultural traits. Researchers found that differences in allele dosage significantly impact root weight, plant architecture, and flesh color.
A new DNA sequencing test called AR-ctDETECT has been found to distinguish between patients with poor and favorable prognoses in advanced prostate cancer. The test identified circulating tumor DNA in 59% of patients and showed that detectable ctDNA was associated with worse overall survival.
Researchers at UCLA Health presented several breakthroughs at the San Antonio Breast Cancer Symposium, including improved survival rates for advanced breast cancer patients who receive trastuzumab deruxtecan (T-DXd), a novel ADC. Additionally, new genomic testing and circulating tumor DNA analysis may help identify high-risk patients a...
The InSTAnT Toolkit allows scientists to investigate cellular processes by identifying proximal pairs of RNA transcripts, revealing sets of molecules that work together. This technology provides accurate and reproducible findings, shedding light on the complex interactions within cells.
Researchers developed a new tool called SigRM to analyze single-cell epitranscriptomics data, enabling the study of RNA modifications in individual cells. This can provide valuable insights into gene regulation and its impact on health and disease, particularly in complex conditions like cancer.
A new framework developed by UCLA researchers suggests that genetic data from large libraries of sequenced human genomes can improve the predictive power of genetics in determining how well a patient will respond to commonly prescribed medications and the severity of any side effects. The study, which analyzed data from over 342,000 pe...
Researchers have discovered a major setback in the use of AZD7648 to promote precise gene editing, which causes massive genetic changes and genome instability. Despite this, scientists remain optimistic about advancing CRISPR-Cas technology to treat diseases.