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 discovered over 40 new species of cichlid fish in Lake Mweru, formed around one million years ago. The team found that females were more likely to mate with males from different species if their coloration was attractive or light conditions made it difficult for them to see.
Researchers at Rensselaer Polytechnic Institute develop a DNA star trap that captures and detects Dengue virus in the bloodstream, outperforming existing clinical tests by over 100 fold. The non-toxic, biodegradable test could be adapted to kill viruses as well.
Researchers from the John Innes Centre discovered that simple shifts in gene activity in the leaf bud provide a flexible mechanism for forming leaves of all shapes and sizes. The study reveals how cup-shaped leaves evolved from flat sheets through simple genetic changes, offering a simple mechanistic explanation for diverse leaf forms.
Genetic analyses reveal a new species, Ryukyu-funori (Gloiopeltis compressa), and multiple unnamed species of Gloiopeltis in Japan, challenging previous classification. The study highlights the high diversity within the genus, with many populations previously misclassified as separate species.
A study from Purdue University found that some breeds of dogs have hidden coat colors and other traits due to genetic variations. The researchers analyzed data from 212 dog breeds and discovered that up to 48 breeds possess the tailless gene variant, often at low frequencies.
A study at Johns Hopkins Medicine identified three complement system genes linked to MS-caused vision loss. The researchers found that patients with specific genetic changes in these genes were more likely to experience severe vision problems, opening up new avenues for precision medicine and potential treatments.
Researchers at Cincinnati Children's Hospital Medical Center identified the transcription factor activator protein 1 (AP-1) as critical to the formation of mature and fully functioning T cells. AP-1 helps open up chromatin, a twisted structure of DNA that controls cell activation.
A study published in PLOS Genetics found that obesity is associated with a higher risk of type 2 diabetes in women and chronic obstructive pulmonary disease and chronic kidney disease in men. The researchers analyzed data from over 423,000 participants and identified distinct patterns of disease association for each sex.
Three moth species, including the peppered moth, rely on the same gene for industrial melanism, a response to environmental change. The mutations likely occurred hundreds of years before the industrial revolution, suggesting adaptive evolution uses similar genetic machinery across deep evolutionary time.
Scientists with the Smithsonian have documented a new species of bird, the Spectacled Flowerpecker, which is distinct from other flowerpeckers. The discovery highlights the rich biodiversity in Borneo's forests and underscores the importance of conserving these ecosystems.
The RESILIENT trial found disease control in 114 out of 126 patients evaluable per protocol and progression-free survival. The study suggests that label-agnostic therapy regimens guided by Encyclopedic Tumor Analysis can offer meaningful clinical benefits for patients with relapsed refractory metastatic malignancies.
Researchers in New Zealand have developed a comprehensive map of white clover heritage and genetic landscape, providing a valuable resource for breeders. The 'pedigree map' reveals the history of the species, including its origins and genetic makeup, enabling more informed breeding decisions.
A large genome-wide association study has identified 183 genetic loci associated with high serum urate levels, a major risk factor for gout. The study also found that these loci can be used to predict gout risk in independent populations.
Researchers develop machine-learning tools to analyze 3D plant shapes, improving high-throughput phenotyping. The software achieves 97.8% accuracy in identifying stems and leaves, helping scientists better understand plant growth and responses to climate change.
A new study suggests that tsunamis after the Great Alaskan Earthquake of 1964 brought a tropical fungus ashore, leading to subsequent outbreaks of often-fatal infections among people in coastal regions. The fungus, Cryptococcus gattii, is typically found in warm climates but was discovered in the Pacific Northwest region.
Researchers at the University of Alberta are developing a new treatment that could help almost half of patients with Duchenne muscular dystrophy by restoring dystrophin protein production. The experimental cocktail of DNA-like molecules has shown dramatic regrowth of dystrophin, which acts as a support beam to keep muscles strong.
A new experimental test made from bacterial innards has high potential as a basis for an inexpensive, easy malnutrition test for use in the field. The test can detect zinc levels and quantify clinically relevant levels, allowing aid agencies to get immediate information and influence policy decisions on nutritional interventions.
A Nemours study suggests genetic testing can personalize PPI dosing for eosinophilic esophagitis patients. This could improve efficacy and reduce side effects in up to 90% of children, according to researchers.
Researchers discovered physically linked mating type loci in 24 Trichosporonales fungi species, with highly conserved gene sequences. This is unusual, as mating type chromosomes tend to degenerate during evolution, and the mechanisms stabilizing these loci will be analyzed in future studies.
A genome-wide analysis of ancient DNA from over 500 individuals sheds light on the complex genetic ancestry of South and Central Asia. The study documents genetic exchanges with European Steppe, Near East, and southeast Asia, revealing a population history that reflects similar genomic patterns to those in ancient Europe.
A new beaked whale species, Berardius minimus, has been discovered and confirmed in the waters off Hokkaido. The species exhibits distinct physical characteristics, including a smaller body size, shorter beak, and darker color compared to known species.
A study of lemur scents reveals that an individual's distinctive body odor reflects genetic differences in their immune system. Females pay more attention to the scents of males with different immune genes, which could lead to more diverse and resilient offspring.
The study found that ancient geological events, such as mountain range uplift and river formation, drove the emergence of new species of harvestmen in the southern portion of the Atlantic Rainforest. This discovery challenges the assumption that climate fluctuations are the primary cause of high biodiversity in this biome.
A new study published in BMC Evolutionary Biology reveals that grey squirrels turned black due to interbreeding with fox squirrels. The faulty pigment gene was identified as identical to one found in the closely related fox squirrel species native to North America.
Researchers identified thousands of host mRNAs targeted by gammaherpesvirus microRNAs, revealing significant conservation of miRNA targeting among viruses. The study provides new insights into the function of gammaherpesvirus miRNAs and their role in establishing lifelong infections.
A new DNA methylation test has been shown to accurately predict which cases of precancerous cervical disease will become more serious, helping women decide on treatment options. Most women with moderate dysplasia can be safely followed without surgery until their disease resolves.
A gene test can identify prostate cancer patients who are likely to respond to a new type of treatment that uses radioactive particles to kill cancer cells. The test detects genetic weaknesses in DNA repair genes, which is linked to high levels of PSMA on the surface of cancer cells.
A new study found that half of participants with well-managed HIV retain HIV DNA in their cerebrospinal fluid, associated with cognitive deficits. Researchers also noted a link between HIV DNA and poorer performance on neurocognitive tests.
A recent study published in Mammalian Genome found that inbreeding depression reduces litter sizes in purebred golden retrievers. The researchers analyzed data from 93 female golden retrievers and discovered that a dam's inbreeding coefficient was associated with the number of puppies it birthed.
Research reveals scorpionfly species are not separate, but have evolved different forms to adapt to altitude and climate. The study uses Bayesian simulations and phylogenetic analyses to estimate divergence time of Japanese scorpionfly lineages.
Researchers found that protein clumps in ALS neurons can be triggered by cellular stress and may provide a potential target for new therapies. Chemical compounds have been identified to prevent this stress-induced accumulation, offering a promising starting point for treating the disease.
A new noninvasive test for genetic disorders in embryos resulted in fewer false negatives and was less prone to errors compared to traditional trophectoderm biopsy. The study tested 52 human blastocysts and found the method to be more reliable with no false positives detected.
A recent study has analyzed the genomes of nearly 50,000 non-European individuals to maximize genetic discovery and lessen clinical disparities. The study revealed nearly 1,500 associations between genes and disease in minority populations, providing valuable insights into the genetic underpinnings of disease affecting non-whites.
Researchers at Baylor College of Medicine reanalyzed preexisting molecular data with new disease-causing genes and genetic knowledge, increasing the diagnostic rate nearly doubling it in one cohort. The computational pipeline facilitated semi-automated reanalysis, reducing labor intensity and cost.
The Genes for Good project has engaged over 80,000 Facebook users, collected 27,000 DNA samples and amassed a trove of health survey data on a more diverse group than previously possible. Researchers say their app could work as a model for studies on an even larger scale.
A study of over 600 infant genomes found that variations in the SLIT2 gene may contribute to premature births by activating the mother's immune system. The researchers also discovered a link between the SLIT2-ROBO1 signalling pathway and multiple pregnancy complications, including preeclampsia and ectopic pregnancy.
A recent study surveyed over 1,000 consumers who downloaded their raw genetic data from services like 23andMe or AncestryDNA. Most used third-party apps like Promethease or GEDmatch for both health interpretations and genealogical research.
Researchers at the University of Bonn used AI to diagnose rare diseases in 679 patients with 105 different rare diseases. The neural network combines facial analysis with genetic data to improve diagnosis accuracy.
A new analysis of 997 twin pregnancies reveals that cell-free DNA testing for Down syndrome is just as accurate as in singleton pregnancies, with a detection rate of 98% and only 0.05% misdiagnosis rate. The study provides compelling evidence to recommend cfDNA testing for mothers carrying twins.
A new method uses sound waves to trap and release single-cell green algae cells, allowing for rapid measurement of their movement. This technique accelerates the analysis of hundreds of cells in minutes, enabling researchers to study cilia dysfunction more efficiently.
Researchers at Montana State University have developed software to analyze pangenomes, which can help identify genetic variations associated with drought tolerance in plants. The tool also shows promise for diagnosing diseases with a genetic component, such as certain types of cancer.
A team of researchers discovered a new gene linked to severe childhood epilepsy by analyzing phenotypes and genomics data of patients with similar clinical presentations. The study used a novel computational method to identify the AP2M1 gene variant, which regulates excitability and inhibition in brain cells.
Research found that T-cells dominate advanced plaques and a subtype of T-cells, called CD4-positive effector memory cells, are more common in patients who have previously had a stroke or mini-stroke. This localized inflammation may be targeted by new immune therapies to reduce heart attack and stroke risk.
Cyanobacteria utilize a new photosensor regulating yellow-green light-harvesting antenna protein for photosynthesis. The discovery was made by researchers at Toyohashi University of Technology and found that the photosensor emerged about 2.1 billion years ago through genetic exchange between cyanobacteria.
Researchers analyzed postmortem brain samples from 24 people with Alzheimer's and 24 without the disease to identify cellular pathways affected by the disease. The study found that axon myelination is disrupted in patients, and gene expression patterns vary significantly between men and women, suggesting potential new drug targets.
TeraPCA, a new tool developed by Purdue University researchers, is designed to analyze large genetic datasets more efficiently. By making approximations of top principal components and leveraging multithreading, TeraPCA can process data in five or six hours compared to two days with existing methods.
Researchers analyzed genetic information from 7,026 UK children to find polygenic scores that predict up to 11% of the difference in intelligence and 16% of the difference in educational achievement. The study used multivariate genomic approaches to increase predictive power and found improved accuracy when analyzing multiple traits.
Researchers at JILA have developed a fast and gentle method to prepare DNA samples for imaging in liquid, revealing detailed structures of protein-DNA complexes. The process, which takes just five minutes, preserves the mechanical properties of DNA and produces high-resolution images of DNA's iconic double helix structure.
A new web-based portal, Metascape, integrates over 40 bioinformatics data sources to allow non-technical users to generate insights in one click. This tool removes data analysis barriers, enabling researchers to focus on important biological questions.
A new computational model facilitates diagnosis of previously unsolved cases of neurodevelopmental and congenital abnormalities by examining DNA methylation. The test resolved dozens of new cases, providing a specific diagnosis that can help predict the course of the disease.
Researchers have developed a new method to study gene expression and its relationship with cell behavior, including regeneration. The method, called single-cell-digital gene expression (1cell-DGE), allows for the analysis of RNA from individual living cells in intact tissue without compromising positional information.
A new analysis tool developed by Florida State University scientists can help improve understanding of population genetics and combat pathogens. The f-coalescent model, which incorporates fractional calculus, offers a promising method for analyzing the spread and distribution of disease vectors.
Researchers detected Cryptosporidium parasites in 40% of surveyed wells in Minnesota's public water systems, even those not influenced by surface water. The findings suggest soil may not completely filter out the parasite, prompting consideration for monitoring and treatment measures.
Researchers design DNA molecules that can carry out reprogrammable computations, executing six-bit algorithms for simple tasks. The system demonstrates versatility and potential for teaching about molecular processes encoding information.
A research team at Osaka University has identified a genetic factor essential for the virulence of Streptococcus pneumoniae, a major threat to public health globally. The study reveals that the cbpJ gene is under strict negative selective pressure, making it an attractive target for drugs to combat antibiotic-resistant bacteria.
A comprehensive study found that women are diagnosed later than men for most diseases, with significant differences in patient care courses. The study analyzed data from 6.9 million Danish people and found an average difference of 4 years across 770 types of diseases.
Researchers used environmental DNA to track Japanese eel populations in 10 rivers, detecting 91.8% of confirmed locations and providing insights into abundance and biomass estimation. This non-lethal method is ideal for monitoring endangered species, including invasive foreign eels.
Analysis of genetic data from over 94,000 individuals has revealed five new risk genes for Alzheimer's disease and confirmed 20 known others. The study also implicated a genetic link to tau binding proteins and suggested that therapies developed for early-onset disease could be applied to late-onset Alzheimer's.
Researchers have discovered that Ibiza natives possess a unique genetic signature distinct from the rest of Spain's population. The study suggests that current Ibizans descend from Catalan invaders who repopulated the island from the 13th century, resulting in a genetic anomaly similar to that found among Basques.
A nationwide study published in ESC Heart Failure has identified four major mutations causing hypertrophic cardiomyopathy in Finland. The study found that 40% of patients carried a specific or likely mutation, while 20% were carriers of a rare gene mutation with unknown role.