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 University of Oklahoma researcher has been awarded a competitive NIH grant to advance tribally defined genomic research approaches. The project, called Partnerships for Indigenous-led ELSI Research (PIER), will strengthen meaningful collaboration with Indigenous communities and promote Indigenous-driven approaches to genomic research.
Researchers have identified novel sources of soybean resistance to cyst nematode that could help protect global soybean production. The study reveals a wealth of previously untapped genetic resistance to SCN by mining deep into soybean genomes.
The discovery of seven naturally-mummified cheetahs in Saudi Arabia reveals that at least two subspecies inhabited the peninsula before their extinction. This finding may open new possibilities for the reintroduction of cheetahs to the peninsula, with a genetic pool supporting rewilding efforts.
A recent genomic study by Dr. Mayana Zatz and colleagues reveals that Brazil's admixed population may hold the key to understanding exceptional aging. The study identifies over 8 million novel genetic variants in the Brazilian population, with potential protective mechanisms against age-related diseases.
Researchers created detailed maps of the human genome's three-dimensional organization across time and space, revealing how genes interact and fold as cells function. The study provides a powerful framework for predicting which genes are likely to be affected by pathogenic variants.
Researchers at Arizona State University introduce powerful tools to analyze microbial family trees and biological data, strengthening microbiome research, disease tracking and environmental monitoring. The new software library scikit-bio provides a foundation for analyzing large biological datasets.
The emergence of A(H3N2) subclade K viruses in Australia and New Zealand extended their influenza seasons, with Australia experiencing a record-breaking season. The viruses were likely imported from the US and accounted for half of Australian viruses and over two-thirds of New Zealand viruses.
The initiative aims to decipher the basic function of human genomic sequences, enabling personalized diagnosis and therapy. The partnership will analyze genomic regions to identify underlying mechanisms that contribute to disease and uncover potential therapeutic targets.
Researchers studied the genetic response of umbrella acacia and splendid thorn acacia to drought stress. The study found that umbrella acacias prioritize continued growth over water conservation when water is scarce, using up all accessible water to survive severe droughts. In contrast, splendid thorn acacias invest in water conservati...
The Josep Carreras Institute is pioneering Spatial Transcriptomics to understand tumor structure at the cellular level. The institute's guidance on this methodology offers practical solutions for improving reproducibility and clinical application.
Dr. Amin's transformative insights reshape international understanding of depression genetics, identifying novel therapeutic targets and biomarkers for diagnosis and treatment. Her systemic disease model challenges traditional views of depression as a brain disorder.
A renowned geneticist, Dr. Martin Alda, has made a groundbreaking discovery that bipolar disorder is composed of multiple genetically distinct disorders, transforming treatment approaches worldwide. His research also highlights the importance of combining basic research with clinical observations to advance psychiatric care.
A 'genomic-first' approach can identify rare genetic disorders earlier and more frequently than standard genetic testing driven by clinical symptoms. The study found that a majority of participants with associated genetic variants did not have matching diagnoses in their electronic health records.
A new research paper from Colorado State University finds that precipitation levels are the key environmental factor influencing genetic variation in the warbler's beak, which is crucial for heat retention. The study reveals that birds struggling to adapt to climate change experience higher stress levels and population declines.
Researchers identified 33 plasma proteins that differ significantly in patients with ALS, suggesting the disease could be detected up to 10 years before symptoms appear. Machine learning models showed strong performance in separating ALS cases from non-ALS cases, with an accuracy of over 98.3%.
A new study published in Cell found that relying on stand-in reference DNA from similar but different species can significantly distort research findings for vulnerable species. Using the wrong genome can miss up to a third of genetic variations and lead to misleading conservation decisions.
Dr. Rentería's Australian Parkinson's Genetics Study (APGS) includes nearly 20,000 volunteers, generating a comprehensive genetic database to understand Parkinson's disease variability. He incorporates wearable sensors and digital biomarkers to address clinical heterogeneity.
Researchers at OIST found that only cyanobacteria Trichormus azollae are true symbionts of Azolla ferns, with their genomes showing extreme decay and loss of genes. The study sheds light on the genomic impacts of symbiosis and its potential applications in food security.
A recent study reveals that ORC2 subunit regulates epigenetics and gene expression by compacting chromatin and attracting repressive histone marks at some sites, but activating gene expression at others. This regulation also prevents CTCF binding at certain sites, leading to changes in chromatin structure and gene expression.
A $2 million collaboration will use genomics and targeted recombination to create drought-tolerant and disease-resistant tomatoes. This project seeks to improve global food security by leveraging cutting-edge technologies to address environmental stress and pathogens.
A new study suggests that genetic rescue of endangered species may not be as effective as previously thought, and could even introduce more harmful mutations. Analysis of Eastern massasauga rattlesnakes found more deleterious than adaptive mutations in donor animals selected for relocation.
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
Researchers discovered hibernator-specific DNA regions near the FTO locus that regulate metabolism, allowing hibernators to pack on fat reserves before hibernation. These findings could lead to treatments for human metabolic disorders by tuning up or down gene activity like an orchestra conductor fine-tunes music volume.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
Japanese scientists have identified a novel genetic mutation in Streptococcus pyogenes associated with severe invasive infections. The mutation weakens bacterial growth in human blood and has been found unique to Japanese isolates, indicating a new pathogenic mechanism.
Researchers developed a software fueled by genomics to predict cancer cell behavior, combining genomics technologies with computational modeling. The new 'grammar' enables communication between biology and code, allowing scientists to build digital representations of multicellular biological systems and simulate diseases like cancer.
A groundbreaking single-day study on Crete's soil microbiome has provided new insights into the environmental factors influencing microbial diversity. The researchers identified several key drivers, including soil moisture and nutrient availability, which can inform strategies for preserving biodiversity.
A near-complete genomic framework of wild Oryza species has been developed, offering insights into the evolution of the genus and new avenues for crop improvement. The resource enables researchers to explore genetic diversity and detect adaptive traits useful for domestication.
ADLM 2025 will tackle urgent topics like clinical AI integration and fake medical news, as well as leveraging genomics for personalized healthcare. The meeting also explores the health threat of plastics and microbiome medicine to combat diseases.
A new study found that over 65% of ovarian cancer tumors exhibit whole-genome doubling, making them more resistant to treatments. WGD-high tumors suppress the immune response by repressing key pathways.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Researchers identified four clinically and biologically distinct subtypes of autism, each with distinct developmental, medical, behavioral, and psychiatric traits. The study linked subtypes to genetic profiles and developmental trajectories, offering new insights into the biology underlying autism.
The Human Oral Microbiome Database has been updated with a greater breadth of data, including 44 new human oral taxa and a total of 834 identified species. This expansion enables researchers to study the oral microbiome with greater precision and depth.
Diphtheria is still being reported in Europe, with cases higher than before 2020, affecting vulnerable populations like homeless individuals, migrants, and those who use or inject drugs. ECDC recommends tailored public health response measures to protect these groups.
Researchers from BIOMICs group found significant genetic marker associations with facial areas, including eyes, nose, and forehead. The study aimed to predict external human features using DNA analysis for forensic purposes.
A recent study utilizes genomic data and environmental factors to predict key apple traits, improving the selection process for climate-resilient cultivars. Deep learning models outperform traditional methods for traits with complex genetic architectures.
A comprehensive analysis of 2,762 Indian genomes reveals a complex history of genetic mixing, endogamy, and population bottlenecks that shaped the country's genetic variation, health, and disease. The study found that most genetic variation in India can be explained by a single migration out of Africa about 50,000 years ago.
Researchers analyzed genomic data from over 2,700 Indians to reconstruct evolutionary history, revealing ancestry tied to Neolithic Iranian farmers, Eurasian Steppe pastoralists, and South Asian hunter-gatherers. The study highlights the impact of ancient migrations on genetic variation and disease susceptibility.
A study reveals that decades of overfishing have significantly altered the genetic composition of Eastern Baltic cod, leading to reduced growth rates and smaller sizes. The researchers found a correlation between slower growth and increased survival under high fishing pressure.
The Northwestern University-developed SOAR platform helps researchers understand diseases and find potential treatments by analyzing gene activity across various tissues. This tool enables prioritization of drugs to be sent to clinical studies, reducing development time.
Researchers identified biomarkers like uric acid and bile acids as critical regulators of arterial stiffness and inflammation in adolescents with obesity. These findings provide new avenues for early intervention to prevent the progression of vascular stiffness and cardiovascular disease.
Scientists at UC San Francisco discovered how pancreatic cancer cells metastasize to the lungs or liver using the PCSK9 protein. PCSK9 controls cholesterol acquisition, with low levels favoring the liver and high levels supporting lung adaptation.
A new machine learning algorithm, SAVANA, has been developed to accurately detect structural variations in cancer genomes using long-read sequencing data. The algorithm was tested on 99 human tumour samples and showed high consistency with current clinical standards.
A new genomic study offers a unique lens for understanding the extinction crisis in Hawai'i, revealing that there is still time to save the critically endangered honeycreeper 'akeke'e. With only 17 species of iconic honeycreepers remaining, efforts to control mosquito populations and conservation breeding programs are underway.
Researchers found evidence that introners, a type of selfish gene, are responsible for spreading genetic complexity across species. The study revealed eight instances of horizontal gene transfer between unrelated species, suggesting that introners may hitchhike on giant viruses to transfer between species.
Rajeev Varshney, a Murdoch University professor, has been elected as a Fellow of the Australian Academy of Science. He is recognized for his groundbreaking work in genomics, genetics, and pre-breeding, helping to secure food production in the face of climate change.
Experts uncover biological secrets of Leonardo da Vinci through 30 years of genealogical research, revealing genetic continuity of the Da Vinci male line since the 15th generation. The study also confirms the existence of a Da Vinci family tomb and analyzes DNA samples from six living descendants.
Researchers have mapped a 7,000-year-old genetic mutation that provides protection against HIV, found in 18-25% of the Danish population. The mutation arose in an individual from the Black Sea region between 6,700 and 9,000 years ago.
The latest focus issue of Molecular Plant-Microbe Interactions explores the molecular, cellular, and genomic details of cereal crop diseases, highlighting key research on plant-pathogen interactions. Groundbreaking work has advanced the field, offering new insights into disease resistance and management strategies.
A recent study on the Haenyeo divers from Korea found that they have distinct genetic adaptations, including gene variants associated with cold tolerance and decreased blood pressure. The researchers also discovered two unique gene variants in the Haenyeo population that may help them cope with the pressures of diving.
Researchers identified unique biological mechanisms that cause premature aging in the brains of individuals with alcohol, opioid, and stimulant use disorders. Different substances appear to hijack the brain's natural aging rhythm through distinct molecular mechanisms, though some pathways are shared across different substance types.
A hospital-based outbreak detection system has been shown to prevent infections, save lives and cut costs. The Enhanced Detection System for Healthcare-Associated Transmission (EDS-HAT) uses genomic sequencing to analyze infectious disease samples from patients, identifying near-identical strains that flag potential outbreaks.
Researchers identified crucial structural variations that determine seed size and weight in peanuts, paving the way for improved legume crops. A pangenome of peanut was assembled, serving as a fundamental resource for genetic enhancement.
The Hong Kong Bauhinia Genome Project has completed a decade-long effort to sequence the DNA of Hong Kong's floral emblem, revealing 28 complete chromosomes and solving the species' parentage. The project's T2T genome assembly provides insights into genetic mechanisms underlying its vibrant blooms and ecological adaptability.
A team of researchers has comprehensively predicted the location of non-B DNA structures in great apes using newly available telomere-to-telomere genomes. The study suggests that non-B DNA is enriched in these segments and may play a role in genetic diseases and cancer, with potential new functions discovered.
Researchers identify colibactin, a bacterial toxin that alters DNA, as a potential trigger for early-onset colorectal cancer. Exposure to colibactin in childhood may imprint a distinct genetic signature on colon cells, increasing the risk of developing cancer before age 50.
Researchers analyzed DNA from four generations of a large family to understand genetic mutations and their transmission. They found that the rate of de novo mutations varied by over twenty-fold depending on genome location.
Researchers using multi-omics tools analyze blood-derived immune cells to chart disease heterogeneity in unprecedented detail. This approach enables exploration of pre-existing immune states shaped by past infections, environmental exposures, and genetic predisposition.
A new genomics tool, refget Sequence Collections, streamlines genomic research by standardizing reference sequences. This enables scientists to compare data more efficiently and accelerate medical breakthroughs.
Researchers analyzed CRC tumors with high tumor mutation burden to characterize BRAF-associated mutations and decipher their role in carcinogenesis. They found TMB-high tumors likely arise from a heterogeneous population of cells harboring numerous gene mutations distinct from driver oncogenes.