Articles tagged with Genomic Regions
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.
Researchers discovered that autism is often associated with the appearance of new mutations in both protein-coding and regulatory genome regions. These newly formed mutations are more likely to increase an individual's risk of developing autism, with a significant impact from as few as two mutations.
The Donald Danforth Plant Science Center has received a $3.4 million grant from the National Science Foundation to develop novel methods for predicting a plant's phenotype and precisely manipulating plant architecture traits in maize. The project aims to enhance yield potential and address the plateaued yields in recent years.
Michigan State University researchers will use a $1.1 million grant to identify disease-resistant regions in switchgrass, aiming to produce more resilient crops for the emerging bio-based economy. The study's findings will provide valuable insights for breeders to improve switchgrass' viability and provide a consistent source of biofuels.
Researchers have solved the mystery of the geographic origins of American oaks by finding that red and white oaks diverged simultaneously from a single species 45 million years ago. This common ancestor gave rise to two distinct lineages, which then radiated into different ecological spaces across North America.
A team of researchers has created a model to analyze short tandem repeats in the human genome, which are implicated in about 30 harmful conditions. The model predicts the frequency and mutation rate of repeats, providing insights into constraints that may narrow down disease signals.
Researchers have developed a new technique called Orion to flag regions of the non-coding genome that are likely to contain disease-causing genetic changes. This method identifies stretches of DNA that vary little from person to person, which are most likely doing something important and more likely to cause disease.
A study found that San Salvador pupfish acquired genetic variation from island fish, contributing to the evolution of specialized diets. The research identified 11 gene variants in the San Salvador fish genome that came from other Caribbean pupfish populations.
Researchers revamped a 50-year-old flu virus model, revealing loopholes that allow viruses to swap genetic material and give rise to new strains. This discovery could lead to better pandemic predictions and disruption of the flu virus.
The sand rat genome shows a highly divergent GC-rich genomic domain with several essential genes, including the insulin-regulating homeobox gene Pdx1. This region is subject to elevated mutation rates, which could influence evolution and the course of diabetes.
A study by researchers at Berkeley Lab found that heterochromatin organizes the genome into specific regions of the nucleus using liquid-liquid phase separation. This mechanism allows proteins to be targeted to one 'liquid' or the other based on physical traits, enabling precise gene regulation.
Researchers Troy Zars and Elizabeth King will use advanced genomic technologies and behavioral techniques to identify genes influencing learning and memory performance in fruit flies. The study aims to uncover the genetic basis of complex traits and shed light on brain function.
Researchers have discovered 15 new genetic risk factors for coronary artery disease, linking them to blood vessel cell functions. The findings aim to improve understanding of the disease and inform the development of new therapies.
A new study from Karolinska Institutet reveals that certain 'master' regulatory proteins can activate normally inactive genome regions due to epigenetic changes, leading to embryonic development and cancer. The findings contribute to a better understanding of gene regulation and its role in diseases.
Scientists found 832 disease-causing genes with systematically low coverage across multiple sequencing platforms, highlighting limitations of whole-exome sequencing. Whole-genome sequencing may be more accurate but remains expensive.
Scientists have discovered that the 3D organisation of the genome arises when the first zygotic genes are transcribed, and these boundaries are maintained throughout development. This finding helps explain why the TAD organisation of genomes is similar across tissue types and evolutionary conserved regions between species.
Researchers sequenced Africanized bee genomes to understand their success. They identified a region linked to ovary size and foraging strategy, key traits for adaptation and dispersal. Hybridization between different populations led to the creation of new genetic variants, contributing to the bees' exceptional abilities.
Researchers have devised a powerful new technique to map the entire genome in three dimensions, revealing key interactions between genes and their switches. This breakthrough aims to shed light on genetic variation and its impact on human health.
Researchers have identified 90 genes in fat cells that may contribute to obesity and cardiometabolic diseases. The study used a large dataset of Finnish men with detailed health records, revealing the effects of gene variations on human health and disease risk.
A team at Salk Institute developed REPTILE algorithm to predict regulatory elements in noncoding regions of the genome. The method combines histone modification and methylation data for more accurate predictions, paving the way for targeted searches for disease-causing genetic variants.
A recent study from the University of Pennsylvania School of Medicine reveals that enhancer RNAs play a crucial role in regulating CBP activity and gene expression. The researchers identified eRNAs as the most common type of RNA binding to CBP, suggesting their importance in guiding protein production.
Researchers have sequenced the dry jujube genome, identifying key factors in sugar and acid content, and genes involved in breeding compatibility. This knowledge will aid breeders in creating improved jujube varieties.
Researchers identified four new regions of the genome associated with PSC risk, one of which is linked to increased levels of a protein called UBASH3A. The study found unique aspects to PSC biology and suggests the disease is not simply caused by IBD.
A mathematical analysis has led to a formula describing the movement of DNA inside living human cells, enabling researchers to study the 3D architecture of the genome. The findings provide key insights into how genes are accessed by cellular machinery.
Researchers have developed statistical tools to pinpoint genomic regions that confer benefits to modern humans, such as the EPAS1 gene, which helps Tibetans adapt to high altitudes. The study suggests these interbred regions may have enabled archaic humans to survive in Eurasia and were passed on to present-day populations.
Scientists are exploring the relationship between genome architecture and antigen variation in pathogens like Trypanosoma brucei. By analyzing the parasite's genomic structure, researchers aim to better understand how these pathogens evade the immune system and develop more effective vaccines.
Scientists discovered over 930 genetic differences in rats with an abuse disorder, pointing to regulatory regions influencing memory and reward behavior. These findings strengthen our understanding of the genetic basis of alcoholism and may lead to future treatments.
A new Autism Speaks MSSNG study has expanded understanding of autism's complex causes, highlighting the role of non-coding DNA and environmental factors in gene changes. The research found a clear difference between de novo mutations from the mother and father, with clustered mutations from the mother linked to copy number variations.
A new study introduces Juicer, an open-source tool that enables fully-automated pipeline for Hi-C processes, producing high-resolution contact maps of looping in a single click. The researchers achieved the deepest 3-D maps of the genome to date, spanning over three terabytes of data.
A genomic study using a novel method has identified 15 regions of the genome linked to depression in European ancestry individuals. The study analyzed data from over 300,000 individuals and found sites associated with risk genes, including those involved in brain development.
A new study finds that variations in the 16p11.2 genomic region are distinctively linked to specific cognitive domains in individuals with autism spectrum disorder. Differences emerged between deletion and duplication carriers, suggesting a complex association between genetic alterations and brain function.
Researchers discovered that African trypanosomes use repetitive 70-bp regions to select new coat protein genes from an archive, evading host antibodies. This process could be crucial for reducing chronic infections of sleeping sickness if deactivated.
Researchers have developed GeNemo, an innovative search engine for functional genomic data. This tool allows users to search inside the data using pattern matching, enabling discoveries of functional aspects in specific genome regions associated with normal physiology or disease.
A new study assesses genome-sequencing technologies and finds medically significant regions prone to systematic errors. The researchers call for methods to benchmark performance in all sequenced regions, essential for accurate diagnosis and prevention of false positives and negatives.
Current gene sequencing methods struggle to decipher medically important genes in troublesome genome regions, leading to false positives and false negatives. Researchers call for more accurate sequencing to optimize medical care and prevent unnecessary surgeries.
Researchers at Stanford University School of Medicine used a novel approach to analyze noncoding genomes and identified associations between genetic mutations and medical histories. The study found that specific mutations in regulatory regions were linked to conditions such as narcolepsy, cardiac disease, and hypertension.
Researchers used cactus species to test whether regions variable across closely related species show predictable intraspecific variability. The study found that rate-heterogeneity poses a practical challenge for researchers, and screening steps are necessary to discover regions of the genome with sufficient variability.
Researchers have identified genetic markers associated with individual risk of type 2 diabetes, providing new insights into the biological processes underlying the disease. The study's findings suggest that specific DNA variants can influence gene expression in key organs, offering a promising avenue for translation into clinical utility.
Researchers have developed a CRISPR system that can precisely turn on and off specific genomic regions, potentially revolutionizing the study of human diseases. This technique has shown exceptional specificity, enabling precise control over gene expression.
Researchers identified genes disrupted by balanced chromosomal abnormalities (BCAs) in patients with congenital neurodevelopmental conditions. The study found that BCAs may account for a large portion of brain development and function-related birth defects.
Researchers identify Zelda protein as key player in activating genes critical for embryonic development. The protein opens up enhancer regions, allowing other regulatory factors to bind and activate associated genes.
Researchers will develop computational methods to analyze millions of genomic variants and narrow down the set of candidate disease-causing variants. They aim to understand how non-coding genetic variation affects gene regulation and disease risk.
The study identified gene variants within three highly associated regions for Crohn's disease, including NOD2 and interleukin 23 receptor. Additionally, the researchers found novel regions of chromosomes 2 and 3 to be causative for IBD in African-Americans.
Recent study finds that Mammalian-wide Interspersed Repeats (MIRs) serve as genetic landmarks to target regulatory mechanisms, coordinating gene expression in cells. Boundary elements, encoded by MIRs, help establish the geography of genome packaging, controlling timing and extent of gene expression.
A large-scale genetic study has discovered that the regions of the genome underlying inflammatory bowel disease (IBD) are consistent across diverse populations. The study included nearly 10,000 DNA samples from East Asian, Indian or Iranian descent and an existing set of 86,640 samples drawn from Europe, North America and Oceania.
A comprehensive genome analysis of 7 melon varieties provides new insights into phenotypic variability and selective breeding. The study identifies 902 genes potentially affected by DNA structural variations, including disease resistance and sugar metabolism.
Scientists found that a single generation of the US fruit fly can undergo a significant genetic shift, allowing it to infest apples and threaten the $7 billion apple industry. The study's findings suggest that environmental changes can drive evolutionary adaptations in just a few generations.
A new deep learning model has revealed unexpected genetic determinants of autism, colon cancer, and spinal muscular atrophy by analyzing mutations in 'gene splicing.' This approach has led to the identification of 39 new genes potentially linked to autism spectrum disorder, a 40% increase from previously known genes.
Cell biologists at the University of Toronto have identified a region of the genome that regulates the activity of the critical stem cell gene Sox2, potentially advancing regenerative medicine. The discovery reveals how embryonic stem cells are maintained in their pluripotent state.
A new study reveals that long-term endurance training affects thousands of DNA methylation sites and genes associated with improved muscle function and health. The research also found epigenetic differences between male and female skeletal muscle, which may lead to gender-specific therapies in the future.
A Whitehead Institute team found that protein SUUR acts to control gene copy number by moving along with the engine of the train, acting like a brakeman to stall or derail it. This finding sheds light on fragile genomic regions associated with chromosomal abnormalities and raises questions about its function and regulation.
A team of geneticists decodes the role of non-coding DNA in colorectal cancer, identifying two types of mutations that contribute to disease progression. The study reveals the importance of non-coding regions in regulating gene expression and suggests a new approach for understanding the genetics behind various cancers.
A research team led by Karine Le Roch generated a 3D model of the human malaria parasite genome at three stages of its life cycle. The study revealed one major repression center for virulence genes, which could lead to new anti-malaria strategies by disrupting the parasite's genome architecture.
A CNIO study has discovered that genome replication mirrors the evolutionary history of living beings, with older genes replicating first. This model suggests that new genes emerge in later stages of genome replication, potentially leading to the development of complex structures and organs.
A new computational method, LACHESIS, has been developed to quickly assign, order and orient DNA sequencing information along entire chromosomes. This approach can validate chromosomal abnormalities in cancer research and pave the way for low-cost, high-quality genome assemblies.
Researchers discovered 11 new regions of the genome that contribute to late-onset Alzheimer's disease, doubling the number of potential genetics-based therapeutic targets. The study also identified a genetic overlap with other neurodegenerative diseases, including multiple sclerosis and Parkinson's disease.
Researchers have identified potential genetic variants in non-coding DNA regions that drive the development of various cancers. The new approach prioritizes these variants based on their predicted impact on human disease, offering a promising tool for finding disease-causing genetic mutations.
Researchers found that all coding and non-coding RNAs originate at the same locations along the human genome. This discovery may help pinpoint genetic origins of complex diseases, which often reside outside coding regions.
A genome-wide survey has identified a significant association between regions of homozygosity (ROHs) and the etiology of Alzheimer disease in Caribbean Hispanics. The study found that ROHs could significantly contribute to AD in this population, with notable associations observed at specific genetic loci.
A major step forward in understanding plant gene regulation has been made with the creation of a genomic map that localizes regulatory regions in plant genomes. This map will help scientists identify key genomic regions controlling traits important to farmers.
A large-scale genetic study has associated nine new genetic regions with primary sclerosing cholangitis (PSC), a rare autoimmune liver disease. The study definitively proves PSC is a distinct disease, despite its genetic relationship to inflammatory bowel disease (IBD).