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.
Dr. Nara Sobreira has developed innovative tools like GeneMatcher and VariantMatcher to aid in rare disease diagnosis, earning her the 2023 Watson Genetic Medicine Innovation Award. She continues to work on expanding genome analysis accessibility through education and research initiatives.
A new molecular testing device has been developed to identify individuals with high hypnotizability, who are most likely to benefit from hypnosis interventions for pain treatment. The test detected a subset of highly hypnotizable individuals with high levels of postoperative pain.
A traditional Mediterranean-type diet rich in seafood, fruit, and nuts is associated with a lower risk of dementia. Individuals with higher adherence had up to 23% lower risk compared to those with lower adherence. The study, published in BMC Medicine, analyzed data from 60,298 individuals from the UK Biobank.
A cross-disciplinary team developed a convolutional neural network to analyze microscopy images of chromosomes with cohesion defects. The algorithm achieved 73.1% accuracy in classifying new images, streamlining experiments with chromosome analysis.
A recent study highlights the perils of bacteria's secret antimicrobial resistance, which can be difficult to detect using traditional methods. Researchers are exploring new approaches, such as genetic analysis, to identify and prevent the spread of these resistant strains.
Scientists have discovered a previously unknown lineage of elephant bird that roamed the wet, forested landscapes of northeastern Madagascar, using ancient eggshell DNA. This breakthrough reveals new insights into the diversity of birds that once inhabited Earth and provides clues about their extinction.
Researchers at Rutgers University used artificial intelligence to analyze genes associated with cardiovascular disease, identifying key factors such as age, gender, and race. The study aims to accelerate early diagnosis and treatment of conditions like atrial fibrillation and heart failure.
CHOP researchers have identified variants of a chaperone molecule that can enhance the loading of peptides across different HLA types, which could be used in cell therapy and immunization applications. The study found that chicken-derived TAPBPR proteins can react with multiple HLA allotypes and stabilize the empty MHC-I groove, boosti...
Researchers developed MoBIE, a user-friendly tool for sharing and exploring large image data sets. The tool allows for visualization and analysis of huge amounts of data from hundreds of sources, making it easier for researchers to analyze and interpret microscopy data worldwide.
A recent study found that metformin users had distinct DNA methylation profiles compared to non-users, potentially revealing its role in longevity. The research identified several pathways related to delirium and aging, highlighting the need for further investigation into metformin's mechanism of action.
Research found that cocaine use disorder causes significant gene expression changes in brain regions associated with reward and habit formation, contributing to persistent behavioral abnormalities. The study also identified overlapping molecular changes between cocaine and opioid use disorders, offering potential for targeted treatments.
A study published in PLOS ONE found that common microbiome analysis techniques can yield erroneous results due to incomplete DNA databases. The researchers used computer simulations to test the consistency of current methods, showing that a large number of detected species are not actually present in the community.
A new study has shed light on the complex interplay between our body clock, sex, and age, revealing sex-dimorphic gene expression rhythms and reduced rhythmic programs with age across various biological functions. These findings may lead to new ways of diagnosing and treating pathologies such as sleep disorders and metabolic diseases.
Researchers have identified two new feather mite species associated with the endangered Laysan albatross in Japan. The study provides valuable insights into the ecological dynamics of these parasites and their impact on the bird population. The findings highlight the importance of conservation efforts to protect this species.
A new study finds that andiroba oil accelerates wound healing, increases contraction rates, and promotes local re-epithelialization. The oil also presents a similar potential to low-level laser therapy (LLLT) in treating oral mucositis, a common side effect of chemotherapy.
A study by Tokyo Institute of Technology mapped how singlet oxygen molecules travel along DNA strands, shedding light on their propagation and oxidation patterns. The research could lead to more efficient and selective photosensitizer agents for targeted photodynamic therapy, a promising cancer treatment.
A new study with the GCAT cohort analyzes pigmentary traits and their relationship with diseases, revealing 37 risk loci associated with most pigmentary traits. The research identified a link between darker phototype and vitiligo and cataracts, as well as obesity and hypertension.
Research from Brigham and Women's Hospital found that genetic analysis can identify up to 65% more A2 donors, increasing potential kidney transplants for recipient candidates with blood type B. This could improve availability and equity in kidney transplantation.
Researchers at ETH Zurich have developed a special drone that can autonomously collect environmental DNA (eDNA) from tree branches, allowing for tracking of biodiversity. The drone's adhesive strips pick up material from the branch, which is then extracted and analyzed to identify genetic matches of various organisms.
Researchers at RIKEN Center for Integrative Medical Sciences discover genes and individual variations associated with atrial fibrillation, predicting stroke and mortality risk. They also uncover a potential treatment target, ERRg, involved in the pathogenesis of atrial fibrillation.
A research team at Carnegie Mellon University has developed a machine learning method called SPICEMIX to analyze spatial transcriptomics data. The tool helps identify and understand gene expression patterns in cells, revealing new insights into brain cell types.
A multidisciplinary team reviews genomic test results and recommends treatment options for patients with gastrointestinal cancer, identifying clinical trials suitable for most patients. The program has been successful in providing expert treatment guidance for over 500 patients and can be a model for other cancer centers.
Researchers have created a humanized mouse model that can predict the best match for a living organ donor and detect early signs of transplant rejection. The model uses a combination of HLA-G and B regulatory cells to identify patients who may need less immunosuppressive therapy.
A new study analyzes 48 ancient human genomes and over 16,500 modern Scandinavian genomes to reconstruct the region's genetic history. The research shows that ancestries introduced during the Viking period later declined, suggesting ancient immigrants contributed proportionately less to the modern gene pool.
Researchers discovered a new mode of vertical mother-to-infant microbiome transmission, where microbes shared genes with each other. The study found links between gut metabolites, bacteria, and breastmilk substrates, influencing infant development before and after birth.
A comprehensive analysis of over 100,000 colorectal cancer cases identified 100 new genetic risk factors strongly linked with the disease. These findings could help clinicians determine who's at highest risk for early detection and potentially identify candidates for preventive treatments.
A massive international data analysis uncovered hundreds of signals for new treatment and prevention targets in colorectal cancer. The study identified 250 independent risk associations, including 50 newly discovered ones, through analyzing genomic, transcriptomic, and methylomic data.
The NIH's All of Us Research Program has returned genetic health-related DNA results to over 155,000 participants, detailing increased risk for specific health conditions and medication processing. Participants can choose to receive tailored reports, including a Hereditary Disease Risk report and a Medicine and Your DNA report.
A recent study found that Denisovan DNA sequences near immune-related genes in modern Papuans regulate their activity, affecting how people respond to infections. The research suggests that Denisovan DNA contributed to the adaptation of early modern humans living in New Guinea and nearby islands.
A new analysis of a 45,000-65,000 year old fossil mandible from Spain suggests it may be the earliest documented presence of Homo sapiens in Europe, rather than a Neandertal. The study used CT scanning and 3D modeling to analyze the fossil's shape and features, finding that it shared characteristics with both humans and Neandertals.
Researchers at Baylor College of Medicine and Rice University developed a new contamination detection tool called Squeegee to establish reproducibility in microbiome identification. The tool uses computer analysis to detect 'breadcrumbs' of contaminants, improving the accuracy of metagenomic sequencing analysis in low biomass studies.
A new AI evaluation framework, GOPHER, has been developed to assess the efficiency of genome analysis algorithms. The tool judges programs on their ability to learn genomic biology, predict patterns, handle noise, and provide interpretable decisions.
Researchers discover a shared genetic basis between fibromuscular dysplasia (FMD) and abdominal aortic aneurysms (AAA), with males more likely to develop AAA when a family member has FMD. The study suggests that screening for AAA in male relatives of patients with FMD may be beneficial, along with established guidelines.
Researchers at UC challenge current timeline for mammoth extinction, citing limitations in dating environmental DNA. The team suggests that the slow decomposition of animals in arctic regions could explain how mammoth DNA is showing up thousands of years later than expected.
A simple breeding experiment identified genes that promote cooperation and higher yields in plant populations. Plants with specific alleles were found to produce 15% more biomass when grown in close proximity, while reducing root competition.
A study published in the Journal of Archaeological Science reveals that a domestic dog lived in the Palaeolithic period 17,000 years ago in the Erralla cave in the Basque Country. The bone remains identified as Canis lupus familiaris, making it one of Europe's most ancient domestic dogs.
A new study on a 525-million-year-old fossil has shed light on the origin and composition of arthropod heads, resolving a century-old debate. The discovery of a delicately preserved nervous system in the fossil of Cardiodictyon catenulum, a tiny sea creature, suggests that the brain and trunk nervous system evolved separately.
Scientists at KAUST have identified dynamic regions, called cryptic binding sites, that can be targeted by drugs to treat cancer. The study reveals how molecular motion influences ligand binding to BTB domains, a critical part of many proteins involved in disease.
Researchers found that genetic correlation estimates are confounded by cross-trait assortative mating, a phenomenon where individuals with similar traits mate more frequently. This suggests that some genetic correlations may be inflated and should be re-evaluated for disease risk prediction and therapy development.
Researchers identified genes associated with aggressive clear cell renal carcinoma, a subtype of kidney cancer. Anticoagulant therapies may enhance cancer treatment efficacy. Specific genes involved in blood clotting and insulin transport were found to be linked to disease progression.
A Rice University bioengineer has developed a noninvasive technology to measure gene expression in deep tissues, particularly in the brain. This innovation could improve the monitoring of gene therapy treating neurodegenerative disorders such as epilepsy, ALS, and Huntington's disease.
A new study found that genetic factors may underlie the link between unhealthy teenage behaviors and accelerated biological aging. The research, involving 824 twins, suggests that individuals with high body mass index scores or substance use are more likely to experience rapid aging.
Researchers identified a genetic variant that predisposes people to being slim, carried by 60% of Europeans. The variant affects the amount of fat stored in the body and is associated with the biochemical signalling pathway that tells cells what nutrients are available.
A study published in PLOS Genetics found that genetic variants linked to systemic lupus erythematosus (SLE) may also provide protection against severe COVID-19 infection. The researchers identified TYK2, a gene involved in interferon production, as the key locus behind this protective effect.
Researchers developed a novel method to create deep nanochannels in hard and brittle materials like silica, diamond, and sapphire. By employing femtosecond laser direct writing technology, they achieved sub-100-nm feature sizes and ultrahigh aspect ratios.
Researchers have discovered a newly found protein, CTENO189, that controls the unique locomotion of comb jellies. The protein is essential for the rippling movement of their comb plates, which propels them through the water.
A new study in Cell Systems explores the benefits of using multiple data types in drug discovery. Gene expression and cell morphology provide complementary information for drug prioritization, advancing drug discovery, functional genomics, and precision medicine.
Researchers have identified two distinct molecular subgroups of cervical cancer, C1 and C2, which differ in their clinical aggressiveness and response to treatment. The study suggests that determining the subgroup of a patient's cervical cancer could provide additional prognostic information for planning treatment.
A recent study found that alligators in the Cape Fear River basin have elevated levels of PFAS chemicals in their blood serum, leading to clinical and genetic indicators of immune system effects. The research team detected a significant association between PFAS exposure and autoimmune-like phenotypes in the affected alligators.
A novel genetic analysis by University of Ottawa researchers reveals that climate change could lead to an increased risk of viral spillover in the High Arctic. This increased risk may result in new viruses infecting previously uninfected hosts, potentially leading to emerging pandemics.
Researchers discovered that plasmids can linger in the nose of lab workers for weeks, interfering with clinical diagnostic tests. The study highlights the importance of considering occupational exposure in diagnosis and treatment.
Researchers from the University of Tsukuba have developed a statistical framework called CCPLS that analyzes spatial gene expression data at single-cell resolution. The study found that neighboring cell types influence gene expression variability in ways that were not previously accounted for by existing methods.
Researchers from UTHSC and EPFL identified genetic determinants of longevity, with sex-specific regions and non-genetic effects like early growth and access to food affecting lifespan. The study provides a basis for future therapies targeting aging genes and enhancing healthspan.
A new research paper has demonstrated that psychological factors, such as feeling unhappy or being lonely, add up to 1.65 years to one's biological age, significantly impacting overall health and longevity.
A study conducted at the University of Zurich has identified a key gene network responsible for severe tooth enamel defects. The researchers found that mutations in the Adam10 molecule lead to disorganization of ameloblasts and severe defects in both structure and mineral composition of enamel.
A new study found that integrating genetic testing into electronic health records (EHRs) significantly reduces clinician workload, with average savings of 45 minutes per day. Clinicians can now order and manage tests directly through the EHR, resulting in reduced time spent on clerical work.
Researchers at Washington State University identified eight proteins that regulate insulin sensitivity and resistance in hibernating bears, similar to human genes. The discovery could lead to the development of treatments for human diabetes.
A study by Karolinska Institutet found that children with primary immunodeficiency diseases have a higher mortality rate due to COVID-19. Genetic analysis revealed mutations in genes important for immune defense, and some children lacked antibodies to the coronavirus.
A new genomic test can predict a patient's risk of developing severe COVID-19, according to research from the University of Virginia Health System. The test, called CovGENE, analyzes genes expressed in a person's blood to determine if they may experience a severe disease course with increased risk of death.
A mutation in the TMEM163 zinc transporter gene has been definitively linked to hypomyelinating leukodystrophy, a rare and often fatal neurological disorder. The study's findings provide new insights into the role of zinc in normal brain development, injury, and disease.