Articles tagged with Genetic Variation
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.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
Researchers developed a polygenic scoring system to predict ALS disease risk, improving case status prediction in Michigan and Spain. The system takes into account common genetic variants and explains 4.1% of ALS cases caused by genetic factors.
Researchers identified 756 patients with rare forms of spinocerebellar ataxias (SCA), revealing diverse disease manifestations and symptoms. The study highlights the importance of sequencing the genome to improve diagnosis and treatment for these previously underdiagnosed cases.
Scientists have identified a natural gene variant in barley that enables plants to flower up to 18 days earlier, allowing for improved adaptation to climate change. This discovery could lead to the development of climate-resilient barley varieties with stable yields.
A new study published in Sleep Health found that habitual daytime napping is associated with a larger total brain volume, a marker of good brain health linked to lower risk of dementia and other diseases. The research team used Mendelian randomisation to establish a causal link between napping and brain health.
Research identified three genetic risk factors for Dupuytren's contracture, a condition affecting fingers, that originated from Neanderthal DNA. The study, based on 7,871 affected individuals and 645,880 healthy controls, provides evidence of the intermingling between Neanderthals and modern humans influencing disease prevalence.
A team of scientists investigated how genetic variation is maintained in a species and its impact on adaptation. They found that a complex evolutionary process contributes to the persistence of both old and new forms of a chromosomal inversion in stick insects, potentially fostering long-term survival.
A new study reveals a previously unknown way the immune system detects certain viruses, including SARS-Cov-2, using the inflammasome protein CARD8. Researchers found that CARD8 functions differently among various species and even varies between individuals in the human population.
Researchers at The Hospital for Sick Children identified high densities of variants linked to blood pressure genes in the non-coding genome. The study uses massively parallel reporter assay technology to examine genetic variants and provides a functional map of regulators of blood pressure genes.
A study of tropical tree species found that older, slower-growing trees accumulate more somatic mutations, which can be transmitted to seeds, increasing genetic variation and adaptation. The rate of mutations per year is similar between the two species, suggesting a clock-like accumulation of mutations with age.
A new study by USC Dornsife researchers reveals the mung bean's evolution, migration and climate adaptation journey, with two distinct adaptations favored in specific geographic locations. The southern variant is characterized by larger seeds, while the northern variant exhibits drought tolerance.
Researchers have developed a self-teaching web app called BRIDGEcereal that quickly and accurately analyzes genomic data for cereal crops, identifying patterns of DNA variations. This breakthrough tool is expected to revolutionize crop improvement by efficiently mining publicly accessible cereal pan-genomes.
International researchers have identified nutrient-rich black rice varieties with improved agronomic traits, including shorter stem length and early maturity. These findings provide important resources for crop bioengineers to improve pigmented rice for human health and sustainable agriculture.
A large genome-wide association study identified novel PSA-associated variants and developed a polygenic score to correct for genetic variations in PSA levels. This approach improved biopsy referral decisions, reducing unnecessary procedures while detecting more aggressive tumors.
Researchers at the National Human Genome Research Institute identified a potential treatment for disabling pansclerotic morphea, a severe inflammatory disease. They found that patients with the disorder have an overactive STAT4 protein and significantly improved symptoms with ruxolitinib, a JAK inhibitor.
Researchers developed a computational approach to identify causal noncoding variants affecting blood cell trait changes. The study identified 69 mutations impacting transcription factor PU.1 binding, with 51 altering its site, suggesting a link between these variants and disease.
A new study published in Nature Genetics examines the relationship between gene expression and ancestry, revealing ancestry-specific patterns of genetic architecture. The research analyzed whole genome and RNA sequencing data from African American and Hispanic/Latino children, exploring ancestry-related differences in gene expression.
A new study maps French Canadian populations using a unique dataset of over five million records spanning 400 years, revealing the complex relationship between human migration and genetic variation. The research shows that the genetic structure of French Canadians is encoded within its genealogy.
Researchers discovered a genetic variant protecting against Alzheimer's disease alters levels of proteins and peptides linked to amyloid-beta metabolism. The APP A673T variant demonstrates effectiveness in shifting APP processing from beta-amyloidogenic to non-amyloidogenic pathways, offering a new feasible strategy for AD prevention.
A new Northwestern University study finds that CT scans are more effective than genetics in predicting the risk of heart disease in middle-aged individuals. The study used data from over 3,200 adults and found that adding CT scan data to conventional risk factors improved the accuracy of risk prediction.
Researchers found that apoE4 poorly binds factor H, a regulatory factor of immunity, leading to amyloid-β oligomerization and neuroinflammation. This could be a potential solution to preventing Alzheimer's disease, with further research needed to find a bridging molecule.
Recent studies reveal complex patterns of admixture in human populations, particularly in Africa and the Americas. In Africa, ancient introgression from Neanderthals and Denisovans contributed to increased genetic diversity, while in the Americas, modern admixture resulted in redistributed archaic ancestry.
A novel assay system has been developed to validate ECHS1 gene variants, enabling rapid diagnosis of mitochondrial diseases. The assay quickly pinpointed a new synonymous substitution causing a splicing abnormality in ECHS1 variants, providing a robust platform for variant interpretation.
Researchers found variant cells in lungs of IPF patients that can drive fibrosis and inflammation. These cells may be targeted for future therapy, offering new hope for treatment.
Researchers discovered a new genetic variant in the Reelin gene that provides protection from Alzheimer's disease. The variant was identified through clinical assessments, genetic and molecular studies, and neuropathological analysis of two patients with a similar genetic predisposition to developing early-onset Alzheimer's disease.
A new study reveals a unique founder population structure in Newfoundland and Labrador, tracing the ancestry of European settlers from South-East Ireland and South-West England. The analysis found multiple population bottlenecks and strong associations between Catholic background and Irish genetic ancestry.
Two NYGC research teams have been selected as grant recipients under the NIH Common Fund SMaHT Network. The first team will generate a high-quality somatic variant catalog leveraging three core sequencing assays, while the second team will develop innovative tools for studying somatic mosaicism using a single-cell multi-omics approach.
Researchers at the University of Illinois have identified strong correlations between SARS-CoV-2 cases and deaths, temperature, and latitude. The studies suggest that the virus is genetically encoded to exhibit seasonal behavior, which could be influenced by vaccine design.
Researchers from the ALFA Score Consortium explore how nutrition and physical exercise can positively impact the aging process by modifying epigenetic changes. They find that healthy aging is associated with more tightly condensed chromatin, fewer histone post-translational modifications, and greater regulation by non-coding RNAs.
MIT chemists develop rapid test to determine whether individuals have neutralizing antibodies against Covid-19, offering protection against future infections. The technique uses a fingerprint of sugar molecules to identify neutralizing antibodies in blood samples.
A USC researcher and international team identified consistent DNA base pairs across 240 mammals, including humans, that play a key role in human disease. These 'constrained' base pairs remained generally consistent over millions of years of evolution and are significantly linked to genetic variation.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
A devastating fungal disease, Fusarium wilt of banana (FWB), caused by Tropical Race 4 (TR4) is spreading in Mozambique, jeopardizing banana production. The Cavendish banana variety is highly susceptible to the disease, and lack of access to on-farm data hinders effective containment.
Researchers create high-resolution maps of the 3D genome, revealing interactions between enhancers and promoters that weren't previously seen. The findings suggest many genes interact with dozens of regulatory elements, opening possibilities for studying gene regulation and potentially understanding diseases.
Researchers at NIH have identified large-scale DNA changes, known as structural variants, that contribute to dementia risk. These variants were found in samples from patients with Lewy body dementia and frontotemporal dementia.
Researchers identify OmpU protein variants associated with antimicrobial resistance in Vibrio cholerae bacteria. Understanding the evolutionary origins of AMR can inform the development of effective therapeutics against resistant infections.
Researchers at The Wistar Institute have uncovered a key mechanism by which the p53 gene suppresses tumors. They discovered that a specific genetic variant, found in African Americans, triggers immune function that kills tumors.
A new approach, STING-seq, combines genetic association studies, gene editing, and single-cell sequencing to identify causal variants and genetic mechanisms for blood cell traits. This method can help scientists identify drug targets for diseases with a genetic basis.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
In people with Rett syndrome, nerve cells have a mechanism called transcriptional buffering to partially compensate for genetic changes. This process helps maintain healthy RNA levels and acts as a defence against genetic variations, suggesting a potential new molecular mechanism in human cells.
A multi-institutional study found that dengue virus sequences have evolved dramatically in India, with different serotypes deviating from their ancestral sequences. Dengue 2 has become more dominant across the country, while Dengue 4 is making a niche for itself in South India.
Researchers have identified mechanisms behind the emergence of new and contagious coronavirus variants by analyzing over three million genome sequences. The study found that concordant substitutions occurring at other sites influence the likelihood of a substitution occurring at a specific site, leading to unexpected variant emergence.
Researchers at UCL have identified proteins in the blood associated with an increased risk of developing heart diseases, including heart failure. The findings could lead to more refined cancer treatments that minimize cardiotoxicity and improve survival rates.
The study of Balto's genome provides new insights into the genetics of working dogs, revealing they were more genetically diverse and healthier than modern breeds. The analysis also identified beneficial adaptations in genes related to physical traits such as weight and skin thickness.
Researchers have created a new manual to study human diseases, using evolutionary genomics to analyze genetic risk. The manual reveals the importance of highly constrained genes that unite mammals, providing insights into neurological disorders and psychiatric conditions.
A study published in Clinical Pharmacology & Therapeutics has identified six single nucleotide polymorphisms associated with opioid use disorder. The findings suggest that genetics play a role in the development of OUD, but environmental factors also contribute to its progression.
Researchers have analyzed DNA samples from over 50 institutions, including Balto at the Cleveland Museum of Natural History, to shed light on extraordinary feats in mammals. The study has identified unchanged DNA across millions of years of evolution and pinpointed genetic variants associated with rare human diseases.
Large structural changes in human ancestors' genomes may have sparked smaller changes that set human brains apart from other primates. Researchers found that many enhancers, which regulate brain development, are located near these regions, suggesting a link between DNA folding and brain evolution.
A novel genetic disorder has been identified in 21 patients from around the world, characterized by neurodevelopmental and craniofacial symptoms. The disorder is caused by rare variants in the MAP4K4 gene, which is involved in multiple signaling pathways, including the RAS pathway.
Researchers have discovered a new genetic culprit in canine bladder cancers, with implications for early detection and targeted treatments. The study found that 13 out of 28 cases had a different type of mutation, which could lead to more precise treatment options.
Researchers found a genetic variant of TNFAIP3, which regulates inflammation, can paradoxically protect the kidneys from damage in the short term. The study could lead to simple genetic tests for predicting kidney disease risk and personalized treatment approaches.
Researchers developed DeMAG, an open-source web server facilitating accurate interpretation of genetic mutations in disease genes. The tool reduces false positives by integrating structural and evolutionary features, enabling medical professionals to make informed clinical decisions.
Researchers at Cedars-Sinai Medical Center identified a genetic variant associated with increased risk of developing perianal Crohn's disease, a debilitating manifestation of Crohn's disease. The study highlights the importance of targeting the alternative complement pathway and Complement Factor B (CFB) in treating this condition.
A Mayo Clinic study found that people with severe obesity and a genetic pathway variant are at increased risk of developing hypertension. The research identified 168 carriers of the MC4R variant, who had a higher risk of hypertension compared to noncarriers.
Researchers found that individuals within two Xiongnu elite cemeteries exhibited extremely high genetic diversity, confirming the empire as a multiethnic entity. High status individuals showed lower genetic diversity, while those of lower status had higher heterogeneity, suggesting a diverse origin pool.
Antarctic icefish have evolved special adaptations to cope with extreme cold, including antifreeze glycoproteins and changes to the rhodopsin protein. These changes enable them to see under sea ice and adapt to red-shifted wavelengths in low-light conditions.
Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.
A new clinical RNA sequencing platform at SickKids is helping researchers understand complex genetic conditions and improve diagnosis for patients with rare diseases. The platform has been validated to be used in the clinical space, providing valuable diagnostic information that complements genome sequencing.
Researchers have developed a new technology to sequence individual mitochondria in single cells, allowing for unbiased analysis of full-length mtDNA. This has revealed complex patterns of pathogenic mtDNA mutations and the potential risks of off-target mutations in genetic editing strategies.
Researchers tracked the evolution of Staphylococcus aureus in patients with eczema, discovering rapid mutations in a gene that enables the bacteria to grow faster on the skin. These findings could lead to targeted treatments by targeting variants of S. aureus associated with eczema symptoms.