Articles tagged with Genome Wide Association Studies
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 recent study published in Nature identified over 100 new genetic regions linked to schizophrenia that had not been previously discovered. These findings show that while specific genetic variants may differ across populations, the core biological mechanisms underlying schizophrenia are shared worldwide.
The quota_Anchor tool identifies collinear genes with control over alignment depth, revealing less similar expression patterns in relatively inverted genes. It also finds stronger purifying selection in these genes.
Researchers discovered the biosynthetic pathway of glycitein, a key soybean isoflavonoid, and its role in plant immunity. They found that GmIF6H1 enzyme catalyzes the production of glycitein, which acts synergistically with glyceollins to defend soybeans against infection by Phytophthora sojae.
Researchers develop comprehensive method to connect diseases with underlying genetic machinery, revealing intricate gene networks that influence complex traits. The new technique provides actionable insights into how specific genes affect cell functions, shedding light on biological mechanisms and potential therapeutic targets.
A new method developed by Penn State researchers improves the analysis of genetic data, identifying more genes associated with neurodegenerative diseases like Alzheimer's and ALS. The technique, BASIC, integrates both bulk tissue samples and single-cell data to uncover shared genetic effects across different cell types.
Researchers identified 12 genes linked to canine behaviour also associated with human traits like anxiety, depression, and intelligence. The study provides insights into understanding dog emotional worlds and tailoring training or care to suit their needs.
Genome-wide association studies and burden tests identify different genes, with major implications for drug development. The study proposes two key features for ideal gene prioritization: importance and trait specificity.
Dr Oliver Pain develops GenoPred platform advancing personalized mental healthcare worldwide through accessible genetic tools, democratizing access to cutting-edge genomic methodologies. His work aims to reduce global health inequities by developing inclusive polygenic scoring methods that perform accurately across all ancestry groups.
A substantial genetic component shapes dental caries etiology, with polygenic mechanisms and epistatic interactions across key biological pathways. Key genes like AMBN, ENAM, and MMPs influence tooth mineralization, while TAS2R38 and TAS1R3 impact taste sensitivity and sugar preference.
A large-scale study has identified 48 genes linked to stuttering, shedding light on the neurological pathways of risk. The findings suggest a shared genetic basis with autism, depression, and musicality, providing a foundation for future research.
QUT researchers create novel composite traits from UK Biobank data, identifying 50,000 biomarkers that outperform eGFR in detecting CKD. Their approach uncovers genetic signals missed by traditional methods.
Researchers have identified two genes, RNF144B and ENPP1, that cause calcium pyrophosphate deposition disease in Americans of European and African descent. This discovery opens up promising new avenues for targeted prevention and treatment of CPPD disease, which is currently lacking effective options.
A large-scale genetic study identified the FOXP4 gene as a significant factor in Long COVID, linked to lung health and immune response. The study found a strong relationship between severe COVID-19 cases and Long COVID, highlighting potential biological factors contributing to the condition.
Researchers have discovered that inhibiting the metalloprotease ADAM19 can reduce gut inflammation and cell aging markers across species. The study found that blocking ADAM19 reduced gut damage and inflammation in fruit flies, mice, and human cells, offering a promising path for creating treatments to maintain healthy tissues.
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.
Researchers at MIT have discovered that a genetic variant can lead to defects in transfer RNA molecules, causing embryonic face cells to fail to fuse properly. This study sheds light on the molecular mechanisms underlying cleft lip and cleft palate formation.
A recent study has made a breakthrough in understanding the genetic underpinnings of osteoarthritis by identifying 962 genetic markers associated with the condition. The researchers found 513 new genetic markers that were not previously reported, providing potential new drug targets and opportunities for repurposing existing medications.
A comprehensive dataset captures individual and group behaviors across genetically diverse strains of fruit flies, shedding light on how genes shape animal behavior. The study's findings have potential implications for mental health conditions with known or suspected genetic components.
Researchers used genetic data and computational tools to identify genetic variants associated with asthma, finding differences between childhood- and adult-onset forms of the disease. The study provides insights into potential treatment targets for both types of asthma.
A new study found that genetic predisposition to sedentary behavior is associated with a higher risk of developing the most common cardiovascular diseases. Individuals with the highest genetic predisposition accumulated more daily sedentary time and had a 20% higher risk of cardiovascular diseases.
Cells dynamically adjust nuclear pore complexes like a retail store opening more checkout lines to regulate genome access. Research findings suggest that protein creation and disposal systems control the amount of NPCs in cells.
Researchers have identified several key genes and pathways involved in the bovine response to Mycobacterium bovis, the causative agent of tuberculosis in cattle. The study found that genetic variation affecting the initial proinflammatory immune response contributes to bTB susceptibility.
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 discovered 47,350 active putative enhancers associated with Parkinson's disease, schizophrenia, and other neurological disorders. These enhancers were found to regulate gene expression during neuronal differentiation.
Two comprehensive datasets from the Gabriella Miller Kids First Pediatric Research Program explore childhood cancers and congenital disorders. The new datasets aim to identify genetic causes and links between these diseases in children, ultimately supporting the development of improved treatments.
Researchers identified six genetic regions associated with anterior uveitis, a condition causing eye inflammation. The study also uncovered a correlation between anterior uveitis and inflammatory bowel diseases (IBD), with potential implications for treatment development.
Researchers at Hokkaido University discovered that deep-sea hydrothermal vent bacteria can reduce nitrous oxide through an efficient energy metabolism mechanism. The study found that denitrification genes are negatively regulated by transcriptional regulators, suggesting a potential approach to mitigate climate change.
Researchers identified genes that impact tooth development and variation among ethnic groups. They found associations with tooth dimensions on genes inherited from Neanderthals and other genetic variants.
A new study introduces the PWAS Hub, a powerful tool that explores gene-disease connections across 99 common diseases. The platform identifies genes linked to specific conditions and provides valuable genetic insights for clinicians and researchers.
A new study from Iowa State University aims to increase emphasis on phenotypic plasticity in improving crop performance. Researchers linked crop traits, genetics and weather conditions using a quantitative framework, predicting flowering time and yield component traits with high accuracy.
A recent study has identified 51 amyotrophic lateral sclerosis (ALS)-associated mutations in mitochondrial DNA that could help diagnose the disease. The mutations, which include 13 that increase the risk of ALS and 38 protective ones, were found to be significantly associated with an increased or decreased risk of developing the disease.
Researchers have identified new pathogenic pathways in gout through a genome-wide association analysis, providing promising targets for the prevention and treatment of this painful form of arthritis. The study highlights the importance of genetics in gout research and offers potential insights into other illnesses and disorders.
Researchers identified 254 genetic variants that shape key brain structures, including those controlling memory, motor skills, and addictive behaviors. The study provides a roadmap for understanding the genetic basis of brain-related disorders like Parkinson's disease and ADHD.
Researchers at WashU Medicine used a novel approach to examine the genetic building blocks of risk for mental health problems in teens. The study found associations between genetic predisposition and modifiable risk factors, such as screen time, stressful life events, and environmental conditions like neighborhood crime rates.
A genome-wide association study found that inherited genetics is a key factor in why some people develop gout, while others don't. The research identified new targets for preventing gout attacks and hopes to lead to improved treatment options.
Researchers identified known genetic variants for Alzheimer’s disease as risk factors for all-cause dementia and vascular dementia. The study also found a substantial genetic overlap with vascular dementia and cerebral small-vessel disease.
A recent study presented at the Future of Dementia in Africa conference reveals genetic differences between African and Caucasian populations with Alzheimer's disease. The findings suggest that a lack of diversity in genomic studies may limit the effectiveness of targeted therapies across diverse populations.
ISTA's Lisa Bugnet, Alicia Michael, and Marco Mondelli have been awarded ERC Starting Grants to develop new methods for extracting information from data, studying gene regulation, and understanding time-keeping in cells. Their projects aim to simplify data analysis, accelerate personalized medicine, and uncover the secrets of biologica...
Cells produce three times as many 'unproductive' transcripts with mistakes or unexpected configurations as they do steady-state, finished RNA. These unproductive transcripts are quickly destroyed by a cellular process called nonsense-mediated decay (NMD), which suggests the cell intentionally makes mistakes to regulate gene expression....
A new study has identified six genetic regions associated with normal pressure hydrocephalus (NPH), a chronic neurological syndrome affecting gait, memory, and bladder control. The study provides new insights into the genetic background of NPH, which remains unclear despite previous research.
Recent grape genome sequencing has identified key genes related to disease resistance, berry quality, and stress tolerance. Genome-wide association studies have linked over 900 genes to essential traits, enhancing genomic selection and breeding strategies.
Researchers have identified nearly 300 common and over 20 rare genetic variants as significant risk factors for schizophrenia. The study emphasizes the role of multiple genes rather than single-gene causation, revealing complexity in the mechanisms underlying the disorder.
Researchers at U of T mapped the spatial distribution of long non-coding RNAs in testes, finding higher levels than previously estimated. The study suggests lncRNAs play a more significant role in male reproduction and may influence sperm development and behavior.
Researchers combined genotypic data from different platforms to enhance genomic prediction accuracy for apple fruit quality traits. This approach identified significant loci associated with sweetness and acidity, providing valuable markers for breeding programs.
A new study has identified CCL27 and TNFRSF14 as genetic markers in inflammation that may contribute to stroke recurrence. These findings could lead to novel drug targets to mitigate disability and mortality after a first stroke.
Researchers combined DNA markers from two genotyping systems to improve genomic predictions and GWAS for 24 fruit traits. The results showed increased accuracy and detection power when using combined datasets, suggesting benefits to leveraging historical data.
Researchers have discovered several rare types of helper T cells associated with immune disorders such as multiple sclerosis and rheumatoid arthritis. The study found that genetic variants in bidirectional enhancer DNA are linked to specific immune-mediated diseases, including inflammatory bowel disease.
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 new study identifies 140 new genetic risk loci, increasing the number known eight-fold to 164, and suggests that targeting glutamate receptors could lead to treatment options. The research also found a link between restless leg syndrome and an increased risk of developing diabetes.
A comprehensive study by McLean Hospital researchers reveals both shared and unique molecular changes across brain regions, genomic layers, cell types, and blood in individuals with posttraumatic stress disorder (PTSD) and major depressive disorder (MDD). The findings provide potential avenues for novel therapeutics and biomarkers.
A study by Mount Sinai researchers has identified several pathophysiological mechanisms underlying perianal fistulae in Crohn’s disease. The findings highlight key transcription factor binding events and epigenetic phenomena that contribute to the higher rates of complications in African American patients. The research provides avenues...
A new study has identified a deficit in the placental expression of IGFBP1 and low circulating levels as associated with insulin resistance during pregnancy. The findings suggest that measuring IGFBP1 levels could help identify people at risk of developing gestational diabetes early in pregnancy.
Researchers have identified new genetic variants linked to susceptibility of cervical cancer-causing virus, raising the risk of getting cervical cancer from high-risk HPV infection. The study found polygenic risk scores to determine likelihood of having prevalent or persistent HPV infections.
A new study from the Keck School of Medicine of USC found that genome-wide association studies' imputation technique works better for European, African American, and Latino groups than others. The researchers evaluated over 100 global populations, finding that imputation is less reliable for those farther away from Europe.
Scientists discovered that tiny brain bubbles called small extracellular vesicles carry more complete instructions for altering cellular function than previously thought. Researchers found nearly 80% of identified mRNAs were full-length, allowing them to be transcribed by recipient cells into viable proteins.
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.
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.
Researchers developed chronological age prediction models by analyzing gene expression changes in the prefrontal cortex, identifying genes associated with aging and potential mechanisms. The models showed high correlation with age and demonstrated female and male-specific differences.
Researchers linked red/processed meat consumption to increased colorectal cancer risk, highlighting two genetic markers (HAS2 and SMAD7) that alter cancer risk levels based on meat intake. The study analyzed data from nearly 70,000 people and found a 30-40% increased risk for those with high red or processed meat intake.
This study introduces a computational model that uncovers the genetic architecture of tree growth in Populus euphratica, focusing on above- and below-ground traits. The model successfully delineates genetic contributions and network topology driving phenotypic formation, highlighting distinct time-varying growth characteristics.