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.
Researchers at Skolkovo Institute of Science and Technology have identified new genetic markers for controlling glucosinolate content in rapeseed. This discovery can help crop breeders create oil-rich rapeseed varieties, improving oil quality.
A study by Dr. Jianye Ge and colleagues suggests that millions of DNA testing cases may be incorrectly interpreted due to limited genetic information. The new technology has been shown to substantially reduce the chance of mistakes in kinship relationship testing, which could have serious consequences for individuals and families.
Researchers have identified an array of new genes that cause stillbirth, significantly increasing the understanding of the condition's genetic foundations. The findings suggest that genetic analysis could be used to counsel parents who have previously experienced stillbirth and unlock new human biology.
A comprehensive assessment of genomic sequencing as a standalone newborn screening tool found it comes up short, missing about 160 cases and incorrectly identifying 8,000. However, sequencing can still be useful in suspicious cases not clearly identified by MS/MS.
A comprehensive genomic study of cervical cancers in sub-Saharan Africa has identified unique features associated with HIV-positive and HIV-negative patients. The study found distinct gene expression patterns for HPV types and epigenetic changes linked to aggressive tumors, providing potential treatment options.
A new model of screening combines better risk assessment, noninvasive testing options, and targeted referrals for colonoscopy to save more lives. The American Gastroenterological Association proposes a universal approach to screening that reaches more people and offers alternatives to colonoscopy.
A team of researchers found that genes related to blood pressure regulation appear excessively 'turned on' in lung fluid cells of COVID-19 patients, leading to excessive bradykinin production. This overproduction causes leaky blood vessels and increased hyaluronic acid levels, resulting in inflammation and severe symptoms.
Researchers developed a computational tool called PolyA-miner to analyze alternative polyadenylation (APA) sites in RNA strands. The tool precisely identifies novel APA sites that were not detected by traditional analytical approaches, revealing new insights into gene regulation.
A new assay detects intact HIV latent proviruses at higher frequencies than previous methods, revealing a significant amount of intact virus in infected individuals; this finding is crucial for developing an HIV cure. The study provides a benchmark for assessing persistent proviral DNA and its composition.
Researchers analyzed nearly 300 human SARS-CoV-2 antibodies and found IGHV3-53 is the most frequently used gene for targeting the virus spike protein. This gene leads to highly potent antibodies with lower mutation rates, making them promising for vaccine design.
A new precision gene editor for mitochondrial DNA has been developed, allowing scientists to make targeted changes without the need for CRISPR technology. This breakthrough could enable researchers to study rare diseases and basic mitochondrial biology in animals.
A study by Baylor College of Medicine researchers integrates whole-exome sequencing with untargeted metabolomics to identify genetic causes of undiagnosed conditions. The integrated analysis informed 44% of cases, reclassifying variants as likely benign or disease-causing and confirming clinical diagnoses in 21 cases.
A study funded by NIH analyzed nearly 900 women with irregular menstrual periods and identified two PCOS subtypes, each associated with distinct groups of gene variants. The reproductive subtype had higher levels of luteinizing hormone and lower BMI, while the metabolic group had a higher BMI and insulin levels.
A study reveals that long-tailed tits employ learned vocal cues to distinguish between close kin and non-kin, thereby avoiding incest. This unique strategy helps the birds maintain genetic diversity and is crucial for their reproductive success.
A new study in The American Journal of Pathology reports that gene expression analysis of lung explant tissue can accurately differentiate pulmonary arterial hypertension (PAH) from pulmonary veno-occlusive disease (PVOD). This molecular approach promises to facilitate clinical diagnostics and develop novel target-specific intervention...
Researchers are collecting DNA data from popular home genetic-testing kits to identify key genes involved in the body's response to Covid-19. The study, called Coronagenes, aims to understand why some people become ill while others remain symptom-free.
A new gene has been discovered that reduces pollen number in plants, a trait previously thought to be detrimental. The RDP1 gene promotes protein production, suggesting a potential advantage in self-fertilizing species.
Researchers have developed a new method called redHUMAN to simplify genome-scale metabolic models for analyzing human metabolism. This approach reduces the complexity of human genome-scale models by focusing on specific parts of metabolism while minimizing information loss.
Scientists at UCL have discovered sets of regulatory genes responsible for maintaining healthy hearing in fruit flies. They found that manipulating these genes could prevent age-related hearing loss in humans, and have already started a follow-up drug discovery project to fast-track novel treatments.
Scientists used ancient DNA to link fragments of Dead Sea Scrolls, revealing new insights into their meaning and historical context. The analysis found that scrolls made from the same animal skin were more likely to belong together.
A machine learning-based analysis of San Francisco Police Department DNA samples found that selective sampling increases DNA match yields by 45.4% while minimizing costs. Processing all samples in a kit doubles positive matches but is only slightly less efficient.
Researchers created an experimental diagnostic test for COVID-19 that visually detects the virus in 10 minutes, without advanced laboratory techniques. The test uses plasmonic gold nanoparticles to detect a color change when the virus is present.
Researchers analyzed 73 ancient genomes and found that the Canaanites descended from a mixture of local Neolithic populations and Iranian/Caucasus-related ancestry. This study sheds light on the cultural and genetic similarity among city-states, and how migration from the northeast may have influenced the region's culture.
A recent study analyzed datasets on rice plants across Asia to predict traits based on genetics and environment. The researchers found patterns in temperature profiles and geographic distribution of genetic haplotypes, which suggest preferential adaptation to different temperature zones.
A new testing system developed by researchers at the University of Chicago can quantify bacteria, antibiotic-resistant genes, and immune molecule levels in sepsis patients, predicting patient outcomes with high accuracy. This innovative approach enables personalized treatment strategies and may improve patient survival rates.
A groundbreaking study published in iScience has created a detailed 3D map of the intracardiac nervous system (ICN), the 'little brain' of the heart. The researchers used novel imaging techniques to reveal previously unknown complexity and diversity of molecular identities among neurons.
A genome-wide analysis has identified 19 new genetic risk factors for problematic alcohol use and confirmed 10 previously known factors. The study also found shared genetic associations with psychiatric disorders such as depression and anxiety.
A new study suggests that a comprehensive multi-drug regimen for heart failure could significantly extend patients' lives, with potential benefits of up to six years and eight years free from cardiovascular events. The regimen, which combines newer therapies, may improve life expectancy across all age groups.
Researchers have discovered a rare disease called TRAF7 syndrome, characterized by distinctive facial features, cardiac defects, and intellectual disability. The study analyzed 45 new patients, expanding on previous research with seven individuals, to define the clinical picture of this condition.
A recent study has identified 32 new sites on the human genome where variations in DNA appear to alter the risks of getting specific subtypes of breast cancer. The analysis, covering over 266,000 women, may eventually improve the ability to predict breast cancer risks at a subtype level.
A new study found that an individualized mosaic of microbial strains is transmitted from the maternal gut to the infant gut during birth, influencing the infant's metabolic disease susceptibility. Researchers used a 'fingerprint' method to track mothers' microbial strains inherited by infants.
Researchers discovered that helper proteins Swi5-Sfr1 and Rad51-related helpers collaborate to activate Rad51 in DNA repair. Mutations in Swi5-Sfr1 compromised activation, but yeast cells lacking Rad51-related helpers still repaired DNA, suggesting a compensatory role.
A new study analyzes thousands of phylogenetic trees to shed light on the nature of the earliest living organisms. It suggests that early mutation rates were much higher than at present, leading to a complex 'family tree' of life. The research provides insight into how quickly early organisms may have evolved billions of years ago.
The Coalition for Epidemic Preparedness Innovations (CEPI) grants $6.9 million funding to INOVIO and IVI to conduct clinical testing in Korea for INOVIO's COVID-19 vaccine candidate based on their well-established DNA platform technology. The trial will be conducted in parallel to INOVIO's Phase I INO-4800 study underway in the US.
Researchers have identified genes implicated in neurodegeneration throughout the stages of Alzheimer's disease using gene-network analysis. The study found that protein domain networks collapse during the progression of AD, leading to neuronal dysfunction and neurodegeneration.
Researchers identified genes ABTB1 and GRB10 as influential in nutrient-sensing pathways, associated with performance on memory tasks. Lifestyle changes, such as diet and exercise, can delay memory decline, but genetic variations affect their effectiveness.
A new study identified over 1,000 genetic variations in 450 genes linked to moderate to severe myopia. The research suggests that genetics can play a significant role in myopia, with specific genes involved in circadian rhythm and eye pigmentation.
Scientists discover ninth species of dragon lizard in genus Smaug, previously mistaken for similar-looking species S. barbertonensis. The new species, Smaug swazicus, is the largest southern African lizard species described since 82 years ago, with up to 13 inches from snout to tail tip.
Researchers at CNIC have identified an inflammatory regulatory circuit controlled by endothelial cells in the eye, which may regulate retinal vascular diseases and inflammatory disorders. The discovery provides new perspectives on treating conditions like age-related macular degeneration (AMD).
Scientists create two innovative AST methods that can assess a pathogen's sensitivity to beta-lactams in just 30 minutes, targeting top CDC priorities. New phenotypic tests quantify small changes in nucleic acids after antibiotic exposure.
Scientists have identified several genes that may be involved in the development of diabetic kidney disease. By analysing Finnish samples with diabetes, researchers found connections between specific proteins and the condition. The study's findings suggest new potential targets for treating diabetic kidney disease.
Researchers at Princeton University identified key factors essential for chronic hepatitis B infection. The study found that five human proteins are necessary for the repair process of HBV DNA, and targeting these factors could potentially prevent the infection.
A new genetic study reveals a complex US population structure, including fine-scale insights into recent history. The findings show diverse patterns among Hispanic/Latino and Asian American populations, shedding light on their ancestral origins and migration patterns.
Researchers used Rapid DNA Identification to quickly identify 58 victims of the 2018 Camp Fire, a technique that can provide results within hours. This work represents the first use of Rapid DNA Identification in a mass casualty event and has since been utilized in another incident.
Researchers identified a genetic mutation affecting cellular oxygen sensing and a patient's limited exercise capacity. The von Hippel-Lindau gene is fundamental for cells to survive in low-oxygen conditions, and its impaired functionality limits the patient's exercise capacity compared to those without the mutation.
A new study reveals the earliest known interbreeding event between ancient human populations, dating back to around 700,000 years ago. The super-archaics in Eurasia interbred with Neanderthal-Denisovan ancestors, providing insights into human migration out of Africa and into Eurasia.
Researchers at UT Southwestern Medical Center found that traditional cardiovascular risk factors are at least as valuable in predicting who will develop coronary heart disease (CHD) as a sophisticated genetic test. Identifying elevated risk for CHD early on can help patients avoid fatal events through lifestyle changes and preventive t...
The round goby's exceptional adaptability is attributed to its immune system, which features up to 30 times more inflammatory genes than comparable species. This enables the fish to deal with pathogens and extreme environmental conditions, facilitating its successful colonization of diverse waters around the world.
Researchers successfully coordinated MDA to stop onchocerciasis transmission in Sudan and Ethiopia, demonstrating the effectiveness of binational cooperation. The study marked the first known interruption of transmission across international borders.
A recent study analyzed the antimicrobial resistance genes in the mouth and gut microbiome, finding distinct resistome profiles with varying levels of diversity. The researchers' findings suggest that expanding human resistome studies to other body areas is crucial for understanding the spread of antibiotic resistance.
A new single-cell prenatal blood test can identify genetic abnormalities in fetuses with high accuracy, improving the likelihood of detection. The test uses a modified droplet digital PCR assay that assesses DNA from live cells without cell fixation or whole-genome amplification.
A new study from University of Pennsylvania sociologist Wendy Roth found that DIY DNA tests do not lead to a greater belief in racial essentialism. However, those who understand more about genetics going in become more skeptical, while those with less understanding believe in essentialism more strongly.
A 30-year study details clinical course of 184 individuals with genetically diverse forms of MSUD, showing increased survival and hospitalization rates. Despite advances in care, patients continue to suffer from cognitive and psychiatric disabilities, highlighting the need for safer and more effective disease-modifying interventions.
A research team at the University of the Basque Country is using genetic analysis to identify human remains from the Spanish Civil War and dictatorship. By comparing DNA samples from remains with those from family members, they are able to determine the profile of the remains and gather enough information to enable identification.
Researchers identified a variant in the HSD3B1 gene associated with resistance to glucocorticoids in severe asthma patients. The study suggests that genetic testing may help tailor treatment strategies for individuals with severe asthma, offering new hope for improved management of this chronic condition.
Researchers discovered that Cdkn1c loss leads to cell death and smaller brains when targeted at the single-cell level. In contrast, whole animal studies revealed no effect on brain size, suggesting a new growth-promoting role of Cdkn1c.
Researchers used AI to analyze gene activity in blood cells from over 12,000 samples, achieving a hit rate of above 99% for AML diagnosis. This approach could support conventional diagnostics and potentially accelerate therapy initiation, while also reducing costs.
A new Hyb-Seq probe set has been validated for its effectiveness in reconstructing relationships among species within the diverse Asteraceae family. The study's findings highlight the importance of carefully selecting genes to sequence and optimizing data analysis pipelines to improve phylogenetic outcomes.
The MASS software program automates geometric morphometric analyses on leaf shape, reducing errors and making it more accessible to novice researchers. By utilizing digitized herbarium specimens, researchers can now analyze larger groups of data and explore new research questions.
A new method, called CNNC, uses convolutional neural networks to infer gene interactions from massive amounts of gene expression data. The approach outperforms existing methods at identifying disease-related genes and developmental pathways that might be targets for drugs.