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 new tool can predict a person's eye, hair, and skin color from a small DNA sample, providing a physical description. The HIrisPlex-S system is capable of predicting all three pigment traits simultaneously using freely available webtool.
The Massachusetts Public Health Department has received a $100,000 grant from the Centers for Disease Control and Prevention to subsidize tick testing for residents. The program aims to track the incidence and spread of Lyme disease and other tick-borne illnesses in the state.
A new genetic analysis reveals that two male whales fathered over half of the calves born since 1990, indicating inbreeding in the Southern Resident killer whale population. The limited breeding number reduces the population's resilience to change, potentially compromising individual animals' survival.
The researchers created a systems biology model that mimics the process of wood formation, allowing them to predict the effects of modifying multiple genes involved in lignin biosynthesis. This model will speed up the engineering of trees for specific needs in timber, biofuel, pulp, and paper applications.
EPFL scientists have joined the Human Cell Atlas initiative, a global project mapping every type of cell in the human body. The team developed an automated single-cell analysis pipeline, enabling non-expert labs to engage in high-level genomic research.
Researchers discovered genetic and epigenetic changes in humans and chimpanzees that increase the fight-or-flight response, a trait more common in species with warfare history. These adaptations may have played a role in shaping human warfare.
A common version of the FGF21 gene is associated with lower total body fat despite increasing carbohydrate intake, according to a new study. The gene variant also redistributes fat to the upper body, where it may cause harm.
Many forensic methods used in criminal cases lack scientific backing, and traditional pattern-matching methods continue to be used despite insufficient understanding of their accuracy and reliability. Experts hope that by drawing attention to the problem, they can inspire reforms, such as mandatory empirical testing of admissible methods.
A new study by UCSF researchers has identified two previously unrecognized genetic risks associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The findings suggest that these diseases share genetic similarities, but differ in their impact on brain function.
A multinational team led by Universidad de San Martin de Porres analyzed DNA of modern Inka descendants to reconstruct their ancestry. The study found two patrilineal clusters linked to the Lake Titicaca and Southern Cusco region, supporting long-held myths about the Incas' origins.
A large international study used neuroimaging techniques to analyze the brains of over 3,800 volunteers with different types of epilepsy. The study found that all four epilepsy subgroups displayed atrophy in sensitive-motor cortex and frontal lobe regions.
A recent study found no correlation between nematode species and their microbial profiles, contradicting previous findings in other organisms. The researchers discovered a diverse range of microbial associations with nematodes, including parasites and bacteria involved in nutrient cycling.
Researchers have created a statistical analysis software called scImpute to handle RNA sequencing dropouts and improve the accuracy of measuring gene expression in individual cells. The tool uses information from similar cells to make educated guesses about gene abundance, providing more reliable results.
A recent study published in JCI Insight suggests that analysis of microbial DNA and RNA can predict hospitalizations for patients with cirrhosis with high accuracy. The researchers found that these analyses can identify beneficial bacteria and detect pathogenic bacteria, which are linked to inflammation and infection.
Researchers discover bassoon gene mutations associated with a rare brain disorder, PSP-like symptoms, and cognitive decline. The study highlights the importance of analyzing BSN gene mutations in patients with neurological disorders.
Researchers found oral pathogens in colon specimens of polybacterial-infected mice, affecting the microbiome and NO synthesis. The study suggests a link between periodontitis and colon health, potentially impacting motility and antioxidant defenses.
Researchers at UCSF and Stanford University sequence the genome of a mysterious skeleton, nicknamed 'Ata', revealing rare genetic mutations associated with dwarfism and bone growth disorders. The analysis highlights the power of open-source genetic data in enabling precise diagnoses.
Researchers found that altering Cdk5 activity made the brains of flies appear genetically older and their bodies to be about 20 days old. The study suggests that neurodegenerative disorders may accelerate the aging process, leading to earlier death and cognitive decline in affected individuals.
An international team analyzed ancient genomes of 40 early medieval people from southern Germany, revealing a diverse genetic profile among women with artificially deformed skulls. Genetic analysis points to eastern European origins and suggests long-range female mobility bridging cultural spaces.
Genomic analyses of fossil remains from 5th and 6th century AD sites in southern Germany uncover evidence of female-biased immigration in Early Medieval Bavaria. Women with artificial cranial deformation (ACD) show predominantly Southeast European ancestry, while one individual exhibits East Asian genetic markers.
A new study suggests that native pine martens are suppressing invasive gray squirrel populations, allowing native red squirrel populations to recover. Exposure to pine martens has a strong negative effect on gray squirrel numbers, while having a positive impact on red squirrels.
Researchers have identified a new tardigrade species Macrobiotus shonaicus sp. nov from East Asia, characterized by its solid egg surface and flexible filaments, placing it in the persimilis subgroup within the hufelandi complex. This new discovery increases the number of known tardigrade species from Japan to 168.
Massive data analysis reveals that seasonal flu outbreaks originate in the southern and southeastern US, moving northward. The models incorporate health claims, weather, geography, and Twitter data to track the spread of influenza.
A genome-wide association study identified a new genetic alteration, RGMA variant, linked to opioid dependence in European-Americans. The study provides insight into the biological origins of opioid dependence and may lead to novel pharmacological approaches for treatment.
A study by researchers at the University of Chicago found that duplicate copies of a gene in fruit flies evolved separate male- and female-specific functions, resolving competing demands between sexes. These changes occurred rapidly, with the genes specializing relatively quickly.
Newborn naked mole rats display developmental senescence in various tissues, including hair follicles, nail beds, and skin dermis. Oncogene-induced and DNA damage-induced senescence occur in embryonic and skin fibroblasts, suggesting cellular senescence is not eliminated with evolution.
Researchers used human disease pedigrees to identify genetic causes of complex diseases like multiple myeloma, finding two gene regions involved in DNA repair and packaging. This new method demonstrates the potential for pinning down genes contributing to other complex diseases, such as obesity and Alzheimer's.
A study by Kyoto University has found that certain 'mechanosensitive' genes are suppressed when exposed to audible sound. The effects vary depending on the cell type, with some cells showing significant suppression while others show little response.
Researchers used a novel lab-on-a-chip to study gene regulation in single E. coli bacteria under changing environmental conditions. The chip allows for the precise growth and behavior of individual bacteria to be tracked over several days, revealing new insights into bacterial adaptation strategies.
The new guidelines update the 2013 recommendations to include genetic alterations driving lung cancer and new drugs to target these alterations. Testing for ROS1 in all cases of lung adenocarcinoma is now recommended, as well as using circulating tumor DNA and cytology specimens when tissue is unavailable.
A study analyzed the DNA of a heat-loving microbe that uses ammonia for energy production and found highly mobile genetic elements and frequent DNA exchange with other organisms.
A study of Irish genomes reveals 23 distinct clusters separated by geography, with British ancestry influencing western populations. The research also detects genetic input from Europe and estimates the timing of historical migrations, including those of the Norse-Vikings and Anglo-Normans.
A two-year FINGER trial found that enhanced lifestyle counselling prevented cognitive decline despite the presence of the APOE4 gene. The intervention model is now being adapted and tested globally for global dementia prevention strategies.
A recent study has identified over 2,000 regulatory regions involved in learning that are strongly associated with autism. The research team found a genetic mutation linked to increased risk of developing autism in one of these regions, offering a promising new approach to diagnosis and treatment.
A research team from HKBU has developed a new technology to accurately establish a gene regulatory route for analyzing genetic function and understanding complex biological events. The 'LogicTRN' algorithm can help locate key regulatory routes for complicated diseases, facilitating targeted therapy drug development.
Researchers at Carnegie Mellon University have developed a new dynamic statistical model to visualize changing patterns in networks, including gene expression during developmental periods of the brain. The model, Persistent Communities by Eigenvector Smoothing (PisCES), combines information across multiple networks over time to identif...
A single gene variant can have a significant impact on human facial features, according to a new study published in Proceedings of the National Academy of Sciences. The research found three genetic variants tied to specific facial characteristics, including those related to steroid biosynthesis and mucolipidosis type IV.
Researchers at the Missouri Botanical Garden used phylogenetic analysis to confirm the existence of Dracaena umbraculifera, a species thought to be extinct. The study found that the species is more closely related to Dracaena reflexa from Madagascar than to Mauritian Dracaena.
A new study published in JAMA Oncology analyzed data from almost 7,000 tests and found that both FDA-approved companion diagnostics and laboratory-developed tests demonstrated excellent performance on proficiency testing, exceeding 97% accuracy combined across three cancer genes. Most laboratories purchasing in vitro diagnostics for FD...
Researchers have visualized the atomic structures of Cpf1 and Cas9 proteins to analyze their properties and identify ideal tools for different applications in gene modification. The study suggests that Cpf1 is more suitable for inserting DNA fragments due to its ability to produce staggered complementary ends.
Scientists are exploring multi-functional gene-editing technology by analyzing molecular features of Cpf1 and Cas9 proteins. The study reveals the high-resolution structure of these molecular scissors to better understand their working mechanism, including target DNA recognition and cleavage.
A machine learning analysis found an association between genetic variability in the PPARG gene and altered cerebral connectivity in preterm infants. This study suggests that the PPARG signaling pathway may influence neurocognitive problems after preterm birth.
A type of human leukocyte antigen (HLA) gene, HLA-DQB1*03:01, is associated with an increased risk of developing bullous pemphigoid (BP) in diabetic patients taking DPP-4 inhibitory drugs. The gene was found to be present in 86% of non-inflammatory BP patients administered with DPP-4i, compared to 18% in the general population.
Researchers found that a blood test for tumour DNA can predict the likelihood of aggressive skin cancer returning, with 33% of patients who tested positive being alive after five years compared to 65% of those who didn't. The study also revealed that patients with faults in genes BRAF and NRAS are more likely to experience a return wit...
A new biomarker test developed by researchers at Georgetown University Medical Center can predict, with up to 90 percent certainty, which chemical compounds can cause DNA damage that could lead to cancer. The test, called TGx-DDI, is based on genes that are actively transcribed in a cell and can identify stress due to DNA damage.
The study found that trisomy 21 affects proteins on all chromosomes, leading to an overdose of proteins and dysregulated cellular functions. This deregulation disrupts the cell's ability to regulate protein production, resulting in symptoms such as intellectual impairment and congenital heart disease.
A new study reveals that specific barley varieties contribute to beer flavor beyond the malting process, with genetics and environment playing a significant role. The research found that breeding for malting quality does not necessarily result in brewing for flavor, providing insights for future barley breeding programs.
A new study reveals that chronic kidney disease patients have abnormal metabolites in their cells' energy centers, supporting the view of CKD as a state of mitochondrial dysfunction. Researchers hope to identify novel therapeutic targets for CKD using metabolomics.
Researchers analyzed birth and school records to examine environmental moderation of genetic influence on cognitive ability. They found no evidence supporting increased genetic influence in socioeconomically advantaged children.
Researchers developed an algorithm capable of analyzing the spread of antibiotic resistance genes in gut microbiota, revealing new evidence of gene transfer between bacterial species. This method can contribute to effective therapy schemes and curb superbug emergence.
Researchers found norovirus in healthy Indonesian volunteers with no symptoms, suggesting they are a source of outbreaks. The virus was also detected in recombinant variations, indicating high infection rates among asymptomatic individuals.
Pioneering UH researcher Chandra Mohan proposes a simpler salivary test to diagnose lupus, potentially replacing invasive blood tests. Saliva samples from people with SLE harbor antibodies and proteins that could be used as biomarkers for the disease.
Researchers have developed new software to improve the interpretation of Y-chromosome DNA evidence in court. The tool estimates the number of matching males and their possible relatives, helping courts determine the likelihood of the suspect being identified.
Researchers have identified 27 novel tumour suppressor genes that may prevent cancer formation, using a powerful statistical model on over 2000 tumours across 12 human cancer types. This discovery could pave the way for targeted cancer therapies and deepen our understanding of cancer genomics.
A study published in The Lancet found that moving heart surgery to the afternoon can reduce the risk of heart damage and major cardiac events. Afternoon surgery was associated with a 50% lower risk of major cardiac events compared to morning surgery, suggesting that synchronization with the body's circadian clock may improve outcomes.
Adolescents display nuanced views on pediatric genetic testing for adult-onset conditions, with approximately half agreeing to defer testing. Students' opinions were influenced by the preventability of the condition, with those focused on early-onset diseases supporting deferral and those on preventable conditions opposing it.
A study analyzing 1460 scats from breeding sites found that jellyfish are a common prey of black-browed and Campbell albatrosses. Jellyfish were present at seven of the eight sites sampled and comprise 20% of the DNA sequences identified.
A recent study published in Nature Communications has identified 52 previously unknown genes that play a crucial role in human hearing. The research used 'knock-out' mice to assess their hearing thresholds and found that these genes can lead to mild to severe hearing loss or difficulties at specific frequencies.
Researchers at John Innes Centre developed an advanced analysis method to study bacterial signalling, enabling a comprehensive 'signalling map' for the key protein Hfq. This approach integrates data from multiple experiments, increasing our capacity to understand plant and human diseases.
A study published in PLOS ONE found an ornamented bâton percé with antler from a reindeer species, suggesting long-distance exchange between Mesolithic communities. The artifact was likely transported from North Karelia to Central Poland, providing new insight into the flow of goods and ideas in Early Holocene hunter-gatherer groups.