Articles tagged with Genetic 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 large new genetic study in thousands of children and adolescents offers early glimpses of the overall patterns and connections among cognitive abilities such as language reasoning, reading skill, and types of memory. The findings may lead to new tools in understanding human cognitive development and neuropsychiatric disorders.
A new species of frog was discovered in Malaysian swampland, genetically distinct from its doppelganger on Siberut Island. Genetic analysis using Next Generation Sequencing confirmed the separation, making it a unique finding in herpetology.
Recent studies reanalyze gene expression patterns in mouse models, finding greater similarities with human disease conditions, contrary to a 2013 study that suggested poor correlation. The new research highlights the potential of mouse models for studying human disorders and developing treatments.
Researchers at Weizmann Institute of Science discover that genetic mutations affecting only half the population, like those causing male sterility, occur twice as often as those affecting males and females equally. This finding has implications for understanding causes of genetic diseases and developing targeted treatments.
Researchers found that imprinted genes influence puberty timing, linking it to breast cancer, diabetes, and heart disease risks. The study suggests a possible biological conflict between parents over their child's development, with the genetics involved potentially contributing to age-related conditions.
A study of over 180,000 women found that imprinted genes, active only when inherited from one parent, influence the age of puberty in girls. These genetic variations were associated with a difference in development between boys and girls.
A new study found that genetic variations, particularly imprinted genes, play a significant role in determining the age of puberty in girls. The research analyzed DNA data from over 180,000 women and identified six imprinted gene variants associated with earlier or later menstrual cycles.
A UK-led study has discovered over 100 genetic risk factors linked to schizophrenia, shedding light on the biological cause of the condition. The findings point to new biological mechanisms and pathways, including genes associated with schizophrenia being active in the immune system.
A study published in Nature Communications found that around half of the genes influencing reading ability also impact mathematics skills. The research suggests a substantial overlap in genetic variants affecting both traits, with complex interactions between genetics and learning environment playing a crucial role.
Researchers have uncovered 31 genes crucial to the development, growth, and spread of clear cell renal cell carcinoma (ccRCC), the most common form of kidney cancer. The study found eight previously unlinked genes and six unknown to any cancer type, highlighting potential new therapeutic targets.
Researchers from MGH have uncovered new information about genes that may increase the risk of serious cardiac arrhythmias. The studies identified a greater role for calcium signaling in regulating cardiac function and pinpointed specific genes involved in the biology of cardiac repolarization.
A study in southern England found that queen bumblebee queens often disperse widely, sometimes several kilometers away, before founding their own nests. This suggests that genetic diversity is maintained through queen dispersal, highlighting the importance of preserving flower-rich habitats for bumblebee conservation.
Researchers mapped a gene variant among Greenlanders that markedly increases the risk of developing type 2 diabetes. The gene variant is primarily found in Greenlanders and explains 15% of cases in the country.
A team of researchers has identified six new gene loci associated with forced vital capacity, a volume parameter of lung function. The study suggests involvement of these genes in lung development and certain pulmonary diseases.
A study published in BMC Ecology found that British Columbia's mainland wolves and coastal wolves are more genetically distinct than previously thought. The researchers attribute this difference to the varying ecological environments of the two regions.
A study has found that copy number variants (CNVs) are a common event contributing to various conditions, including blindness, deafness, and metabolic disorders. CNV screening can aid in diagnosis, clinical management, and prognosis, providing valuable information for reproductive counselling.
Exome sequencing may miss a high proportion of clinically relevant regions in key disease-causing genes, raising concerns about patient diagnosis. The study's findings highlight the need for improved methods to provide reliable coverage of these genes.
Myriad Genetics Inc. presented new data on its BRACAnalysis CDx and HRD tests, supporting their clinical efficacy in predicting platinum-based therapy response for triple negative breast cancer patients. The company also announced an early access launch of the HRD test in FY15.
Exposure to environmental toxins like benzene and stress may affect biological age, with cigarette smoke considered the most significant gerontogen. Researchers advocate for molecular tests to predict toxicity and accelerate aging research.
Researchers have identified a specific DNA stretch controlling genes that determine face structure and those producing building materials. The region's regulatory elements affect gene Myc activity, leading to facial changes and increased susceptibility to environmental factors like smoking during pregnancy.
A genetic study has identified an ancient girl as part of a genetic lineage shared by modern Native Americans, resolving years of speculation about the Americas' first inhabitants. The study, published in Science, used mitochondrial DNA from her tooth to confirm that she came from the same source population as living Native Americans.
A 12,000-year-old girl's DNA has revealed a significant genetic connection to modern Native Americans. The study found that Naia's skull shape was distinct from modern Native American populations, but her mitochondrial DNA showed a strong link. Researchers hope to sequence the full genome of this ancient girl in future studies.
Researchers found that a variant of the KLOTHO gene not only has anti-aging effects but also enhances brain function by increasing klotho levels. The improvements occur regardless of age, with beneficial effects observed in aging mice as well as young animals.
Researchers developed a new gene expression analysis approach to identify cancer-associated genes from microarray data, outperforming traditional methods. The variance-based approach identified high variation in adjacent 'normal' tissue samples and preferentially selected genes specifically associated with cancer.
A researcher is working on procedures to identify female menstrual blood and vaginal material at crime scenes, while also identifying male fluids. This study aims to differentiate between seminal fluid and semen to prove the occurrence of sexual intercourse in cases of false accusation or prosecution.
A genome-wide association study found a strong link between ABCC9 gene variations and an increased risk of Hippocampal Sclerosis of Aging (HS-A). The study also suggests that sulfonylurea medication use is associated with an elevated risk for HS-A. Researchers hope this discovery may inform new strategies to search for cures.
Immunology is the study of the human immune system, which seeks out and destroys dangerous bacteria, viruses, and fungi. It also explores how its activity connects with other body systems, influencing metabolism, hormone levels, and overall well-being.
Researchers found that multiple types of primitive cells in blood provide the same benefits as a single stem cell, including protecting and repairing blood vessels. The study used a systems approach to analyze gene activity patterns, identifying 15 genes with cardiovascular-relevant functions.
A study of active US military personnel found higher rates of Graves disease among blacks and Asian/Pacific Islanders compared to whites. Hashimoto thyroiditis incidence was highest in whites, lowest in blacks and Asians.
A new circadian gene named Chrono has been discovered to function as a transcriptional repressor of the negative feedback loop in the mammalian clock. Mice lacking this gene exhibit longer circadian cycles, highlighting its importance in regulating daily rhythms.
Research reveals that beneficial insects like dung beetles and flies react differently to ivermectin due to varying levels of sensitivity. This poses a risk to ecosystem functioning and highlights the need for more comprehensive safety tests to protect these organisms.
A new epidemiology model developed by Brown University researcher Yen-Tsung Huang integrates genomic data from SNPs, gene expression, and methylation to find significant associations with diseases like asthma and brain cancer. The model improves performance and validity across different subjects, paving the way for further applications.
A University of Alabama researcher advocates for a greater emphasis on the body's metabolites in understanding illnesses, highlighting their potential to predict heart disease and response to environmental change. The study used fruit flies as animal models and identified nine new metabolites that are good predictors of these traits.
Scientists from Museum für Naturkunde Berlin use genetic data and sound analysis to determine the taxonomic status of two West African treefrog species. They found that two previously considered a single species actually belong to two distinct species, one large and one small, with different call characteristics.
Researchers at Michigan Technological University have identified over 1,000 genes in rice that play key roles in managing stress responses to both biotic and abiotic stresses. The study found that 70% of these genes are co-expressive, turning on under both kinds of stress.
A comprehensive analysis of government grants and publications revealed that only a minor fraction of the funding was intended for aging research. Gerontogenes, which increase lifespan when overexpressed or mutated, are involved in stress response pathways that confirm the existence of a genetics-longevity program.
Researchers have developed a simple blood test that can predict if a child will become obese based on epigenetic switches in the PGC1a gene. The study found that a rise in DNA methylation levels at age 5 was associated with up to 12% more body fat at age 14, regardless of physical activity or puberty timing.
Researchers have developed a blood test that can predict obesity levels in children based on epigenetic switches in the PGC1a gene. The test, conducted on 40 children aged 5, showed a 10% rise in DNA methylation levels was associated with up to 12% more body fat at 14 years.
A new multi-target stool DNA test detects 92.3% of colon cancers, outperforming the current standard fecal immunochemical test. The test identified advanced precancerous polyps nearly 70% of the time compared to 45% for the existing method.
Cologuard detects precancer and cancer with high sensitivity rates, surpassing existing non-invasive tests, offering a user-friendly approach to expand screening effectiveness and curb colorectal cancer rates. The test's accuracy has transformed how we think about colorectal cancer screening.
Research suggests that obese children are more likely to have lower levels of physical activity, which may contribute to further weight gain. The study used genetic data to analyze the relationship between childhood adiposity and physical activity, finding a causal association between the two.
A study found that children with a specific variation of the serotonin-transporter gene were more likely to consume high amounts of violent media and exhibit ADHD-related behaviors. The researchers suggest that genetic factors may play a role in shaping children's media use habits.
A University of Chicago-based team used Beagle, a powerful supercomputer, to analyze genomic data, significantly accelerating speed and accuracy. The findings have immediate medical applications, enabling rapid diagnosis and treatment of genetic diseases.
Researchers at King's College London have discovered a new gene (PIM1) that could be an effective target for innovative treatments and therapies for psoriasis. The study highlights the role of PIM1 and the IL-22 cytokine in skin inflammation, suggesting a direct link between these two.
A new study using genetic signals has strengthened the case for high triglyceride levels as a cause of heart disease. The findings also suggest that high-density lipoprotein (HDL) cholesterol does not have a protective effect on cardiovascular health, contradicting conventional wisdom.
A large-scale study of whole-genome testing has identified a unique treatment approach for women with advanced breast cancer, targeting genomic alterations in their tumors. The study found that around half of patients had targetable genomic alterations, and 39% had rare alterations, many of which no treatments currently exist.
Researchers have identified a new species of beaked whale, Mesoplodon hotaula, based on DNA analysis and physical characteristics of seven stranded specimens. The discovery sheds light on the elusive habits and low abundance of deep-diving whales in the world's oceans.
A study found that non-invasive prenatal testing (NIPT) detected over 83% of chromosomal abnormalities, including trisomies 13, 18, and 21. The test was more accurate for women over 40, but had lower sensitivity for younger women.
Researchers found that treating a peanut allergy with oral immunotherapy changes the DNA of immune cells, which could serve as a basis for a simple blood test to monitor long-term effectiveness. The study involved 20 peanut-allergic children and adults who completed two years of immunotherapy.
A genome-wide association study by 23andMe has identified 11 new genetic markers associated with asthma-with-hay fever. The study, led by researchers at QIMR Berghofer Medical Research Institute, used data from 20,000 individuals and found variants in the ZBTB10 and CLEC16A regions linked to allergic disease.
Scientists at King's College London argue that biobank donors should have unrestricted access to data derived from their own material. This move aims to increase reciprocity and partnership between donors and researchers, recognizing the donor's agency in decision-making processes.
Scientists at Harvard Medical School call for data held in biobanks to be made accessible to donors, enabling them to access their own raw data and conduct independent analyses. This principle aims to promote reciprocity in the relationship between biobanks and participants.
A study of over 57,000 people identified five new genes associated with increased waist-to-hip ratio, a precursor to diseases like cardiovascular disease and type 2 diabetes. The research found that one gene, SHC1, is linked to abdominal fat and may play a role in metabolic imbalance.
Researchers have sequenced the elephant shark genome, providing new insights into bone formation and adaptive immunity. The study reveals a family of genes essential for bone development and identifies a lack of immune cells in sharks, despite robust immune responses.
Researchers analyzed pain response in chickens, discovering that heat stimulation activates TRPA1 receptors similar to cold-blooded animals. Methyl anthranilate, a repellent chemical for birds, also activates chicken TRPA1, highlighting its functional evolution and diversification among vertebrate species.
Researchers found that weekend drinking leads to double the oxidative damage compared to non-drinkers, with DNA damage affecting 44% of cells in drinker group. The study reveals a new potential health risk associated with young people's alcohol consumption.
Researchers have developed a highly sensitive system to detect individual molecules using a 'golden trap' technique. By creating a customized environment with gold nanoparticles and DNA, they can capture and identify single molecules, opening up possibilities for early disease detection in medical diagnostics.
A team of Wayne State University researchers identified transforming growth factor β (TGFβ) signaling as a major pathway affected by hyperglycemia in DM corneal epithelial cells. Adding TGFβ3 to the wound accelerated epithelial wound closure, providing new treatment options for diabetic wound healing.
Researchers from East China Normal University discovered NMDA receptor 2B subunit gene expression declines significantly associated with memory impairment in aged animals. The study identified key regulatory pathways, including P53 and insulin-like growth factor pathways.
The analysis of Rhizophagus irregularis genome reveals its unique ability to capture phosphorus and communicate with plants through cell-to-cell signaling. The fungus has retained much of its metabolic machinery, unlike many other obligate parasitic organisms.