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 ELTE have created an online database of snoRNAs in zebrafish, revealing 67 previously unknown snoRNAs and providing a comprehensive analysis of their expression during development and in adult tissues. The findings may help create better zebrafish disease models and aid understanding of complex human diseases.
The WIN Consortium is transforming cancer care through personalized medicine, leveraging AI, molecular profiling, and clinical trials. The organization's innovations, including N-of-1 clinical trials and WINTHER and WINGPO trials, are helping clinicians make more precise treatment decisions and improving outcomes for cancer patients.
Researchers developed a CRISPR-based diagnostic test that rapidly detects low levels of pathogen genetic material in blood without nucleic acid amplification. The test demonstrated unprecedented sensitivity and could be used to develop highly sensitive CRISPR-based diagnostic tests for detecting pathogens in minutes.
Researchers at MD Anderson have made significant breakthroughs in understanding pancreatic cancer's evolutionary process and developing new treatment strategies. They also discovered that surgical resection can enhance antitumor response in patients receiving immune checkpoint therapy for advanced kidney cancer.
Researchers discovered that sulfur bacteria from the Desulfobacteraceae family work together like a team to break down diverse organic compounds. By analyzing six strains, they found similar molecular strategies and a highly energy-efficient central metabolism pathway, enabling them to thrive in oxygen-free environments.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Researchers at the University of Malaga have identified multiple genetic variants causing Familial Chilomicronemia Syndrome, a rare disease characterized by high triglyceride levels. This discovery enables accurate clinical diagnosis and treatment selection for patients with this condition.
A new study has found a significant link between defective sucrase variants and an increased risk of irritable bowel syndrome (IBS), while those with isomaltase defects were not affected. Individuals with sucrase defects experienced more severe bowel symptoms and avoided sucrose-rich foods.
A study found that DNA methylation clocks used in forensic science and epigenetics are less reliable when applied to non-blood tissues, such as lungs, colon, and kidneys. The researchers suggest that organ-specific epigenetic clocks may be needed to improve biological age prediction.
A large-scale study has identified genetic overlaps in 72 long-term health conditions associated with ageing, revealing opportunities for new prevention and treatment strategies. The research also found that specific genes are linked to co-occurring conditions, leading to a more personalized approach to care.
A study on six serodiscordant couples found that women who were immune to SARS-CoV-2 had elevated expression of the gene IFIT3 compared to their male partners. This suggests that overexpression of IFIT3 may offer protection against COVID-19 by inhibiting viral replication and preventing cell invasion.
Researchers used AI to identify genetic factors in Parkinson's disease progression and FDA-approved drugs that can be repurposed for treatment. The study found potential risk genes like SNCA and LRRK2, which are known to cause inflammation, and identified candidate drugs such as simvastatin.
A blood test using Signatera detected tiny fragments of tumor DNA in the blood, which showed that adding celecoxib to treatment may improve disease-free survival for patients with stage III colon cancer. The analysis found significantly improved outcomes for those taking celecoxib compared to placebo.
A new study published in Cell reveals significant differences in the immune response of children and adults to cancer, with potential implications for targeted therapies. The research shows that children's tumours are generally less inflammatory and have fewer mutations, making them appear less foreign to their immune system.
A genetic fault long believed to drive oesophageal cancer development may actually play a protective role early in the disease, according to new research. The study found that defects in CDKN2A were more common in people with Barrett's oesophagus who never progressed to cancer.
Researchers developed a new tool to measure biological aging in individual cell types, providing insights into diseases like Alzheimer's and liver pathologies. The study found that certain brain cells and liver cells show signs of accelerated aging, making it a better tool for detecting diseases.
Researchers at KAIST have developed a technology that can treat colon cancer by converting cancer cells into normal-like cells. The breakthrough involves creating a digital twin of the gene network associated with normal cell differentiation, leading to significant promise for reversible cancer therapies.
A recent study utilizing plant DNA metabarcoding identifies 186 terrestrial plant taxa on the Tibetan Plateau, surpassing traditional pollen analysis by 25%. The method provides a more detailed and localized perspective on vegetation monitoring and reconstruction.
A new study suggests that a person's biological age can predict their risk of developing colon polyps and early colorectal cancer. Accelerated aging, which is higher than chronological age, may be linked to a greater risk of developing the disease, highlighting the importance of early screening.
Researchers developed a new tool called SigRM to analyze single-cell epitranscriptomics data, enabling the study of RNA modifications in individual cells. This can provide valuable insights into gene regulation and its impact on health and disease, particularly in complex conditions like cancer.
Researchers reconstructed the journey of maize into eastern North America, tracing its dispersal routes and history of selection. Ancient genomes reveal a genetic link between Northern Flints and 1,000-year-old Ozark maize, highlighting early adaptations for local climates and culinary preferences.
Ochsner Health has been chosen as a site for the Global Parkinson’s Genetics Program, a study aimed at identifying genetic links to Parkinson’s disease in underrepresented populations. The study will genotype over 150,000 individuals from around the world, providing population-specific insights into the basis of PD.
Researchers found nearly all women with breast cancer-like mutations carried the anomalies in luminal cells, which line the lobules and ducts. The study suggests that these rare genetic alterations could prime or predispose these cells to cancer development.
This systematic review analyzes 33 biological clocks used for aging and mortality quantification, categorizing them into epigenetic and phenotypic clocks. Epigenetic clocks demonstrate precision in estimating chronological age through DNA methylation, while phenotypic clocks predict mortality using easily measurable clinical variables.
A new study introduces the PWAS Hub, a powerful tool that explores gene-disease connections across 99 common diseases. The platform identifies genes linked to specific conditions and provides valuable genetic insights for clinicians and researchers.
Researchers have created a comprehensive database of protein changes in mice tissues due to aging, providing new insights into age-related diseases. The study reveals proteins that increase with age and improve understanding of the molecular mechanisms underlying aging.
A deep learning AI model can identify pathology in images of animal and human tissue much faster and often more accurately than people, potentially revolutionizing disease-related research and medical diagnosis. The model was trained using images from past epigenetic studies and showed accuracy comparable to human experts.
A recent study from Uppsala University found that genetic variation in cancer cells can enhance the effects of an already approved cancer drug, talazoparib, against liver cancer cells lacking a functional CYP2D6 enzyme. This suggests a potential for more individually tailored and effective cancer therapies.
Testicular cancer is a highly treatable condition with high survival rates when detected early, but patients with the highest-risk disease face a lower prognosis. New genetic changes have been identified using whole genome sequencing, offering potential new treatment strategies.
A new blood test can detect early signs of lung damage caused by antibody–drug conjugates (ADCs) in cancer patients, providing a safer alternative to frequent scans. This breakthrough method analyzes specific markers in circulating DNA, enabling doctors to monitor patients for lung complications without relying solely on imaging scans.
A recent study found 41 novel regions of the genome linked to disc herniation risk, in addition to previously identified 23 regions. This analysis also revealed associations near genes related to the nervous system, providing insights into symptomatic disc herniations and radiating pain.
Researchers at Houston Methodist have identified a new strain of bacteria, Streptococcus dysgalactiae subspecies equisimilis (SDSE), linked to increasingly severe human infections. The study used integrative analysis to investigate the genome, transcriptome, and virulence of SDSE strains, shedding light on their molecular pathogenesis.
A new genetic analysis method called Genomic Informational Theory (GIFT) has been developed to extract more precise data than previously used methods. GIFT is capable of analyzing large datasets and extracting novel information that was previously unavailable through genome-wide association studies (GWASs).
Researchers used DNA barcoding to identify 31,800 insect samples from 37 habitats in Sweden, discovering 175 new species of scuttle flies. The study provides insights into the diversity and distribution of these species, which are influenced by climate factors and habitat changes.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
Plant roots use a silent molecular 'language' to direct fungi to attach, providing phosphates. Researchers discovered that strigolactone activates fungal genes associated with phosphate metabolism, leading to new strategies for cultivating hardier crops and combatting disease-causing fungi.
A genome-wide association study found that inherited genetics is a key factor in why some people develop gout, while others don't. The research identified new targets for preventing gout attacks and hopes to lead to improved treatment options.
A new study by Flinders University experts has developed an AI-powered PCR system that improves the quality of DNA profiling and increases the efficiency of cycling conditions. This technology has the potential to revolutionize fields such as forensic science, clinical diagnostics, and environmental monitoring.
Researchers at Hokkaido University have identified a key gene, glutathione peroxidase 4 (Gpx4), that enables Syrian hamsters to survive extreme cold by limiting cellular damage. The discovery could lead to new treatments for human health, such as improving organ preservation and using hypothermia as a therapeutic tool.
A research team has developed a simplified synthesis method for organic fluorophores using formaldehyde, reducing molecular size and increasing atomic efficiency. The new technique can also be applied to in vivo environments, showing promise for life sciences research and diagnostics applications.
Northern elephant seals nearly went extinct due to overhunting but have since recovered to around 225,000 individuals. The recent study found the species' genetic diversity was reduced during this period, which may impair their ability to cope with future environmental changes.
Researchers have identified James Fitzjames, a senior officer of Sir John Franklin's 1845 Northwest Passage expedition, using DNA and genealogical analyses. The identification was made possible by a DNA sample from a living descendant that matched the remains found on King William Island.
A study published in Kidney International Reports identified mutations in the IFT140 gene as a potential cause of polycystic kidney disease in patients without a family history. The findings suggest that these patients may be underdiagnosed due to mild symptoms and atypical kidney characteristics.
Researchers at Tel Aviv University used modern technologies to challenge the long-held myth that the Roman siege of Masada lasted three years. The study found that the siege actually lasted no more than a few weeks, using precise measurements and 3D digital modeling to calculate the time it took to build the siege system.
A new approach developed by researchers could streamline the forensic analysis pipeline and reduce delays in processing DNA evidence. The technique, using differential digestion with digital microfluidics, simplifies the process of isolating an assailant's DNA from a single sample, reducing manual steps from 13 to five.
Cells produce three times as many 'unproductive' transcripts with mistakes or unexpected configurations as they do steady-state, finished RNA. These unproductive transcripts are quickly destroyed by a cellular process called nonsense-mediated decay (NMD), which suggests the cell intentionally makes mistakes to regulate gene expression....
Researchers discovered a non-virulent bacterium, Mycobacterium spongiae, that shares 80% of its genetic material with M. tuberculosis, shedding light on the disease's origins. The study provides valuable insights into the evolution and virulence of TB.
A new study found that one in 1,000 people in the UK carry genetic variants linked to cardiac amyloidosis, a potentially fatal heart condition. The study also revealed higher incidence rates among individuals with African ancestry, highlighting the need for early detection and monitoring.
A recent study found that the epigenetic age of a tissue is influenced by the frequency and activity of its stem cells. Stem cells in skin and intestine had a higher rate of division, resulting in a younger epigenetic age compared to those in muscle and blood.
Researchers from Tokyo Metropolitan University have discovered a fern species that can exist as an independent gametophyte for long periods without a sporophyte. This breakthrough sheds new light on the evolution of ferns and their adaptation to environmental niches.
Researchers have discovered a method to identify shark species using medical gauze from first-aid kits after bite incidents. This approach can provide accurate and timely information on species, aiding prevention measures and reducing incidents.
Tumors with mutations in ERCC2, ATM, or RB1 genes were more likely to be eliminated by cisplatin-based chemotherapy. The study found a correlation between these gene mutations and complete pathologic response to neoadjuvant chemotherapy.
A study published in Global Change Biology found severe biodiversity decline in the Atacama Trench from 1970 to 1985, coinciding with an El Niño event and extensive fishing efforts. The researchers also discovered a direct impact of sea surface temperature on marine life composition over time.
Scientists successfully mapped transcriptomes from 1.3 million brain cortex cells to gain molecular insights into Alzheimer's vulnerability and resilience. The resulting atlas holds promise for gene and molecular discovery across pathways affecting brain health.
Historical DNA barcodes from over a century old butterfly specimens help classify a group of rare Calinaginae butterflies. The classification sheds new light on the taxonomy of this insect group.
Researchers found a correlation between protein folding and evolution in certain globular protein families, with most conserved exons corresponding to better foldons. However, the general trend did not hold for all protein families, suggesting other biological factors may influence protein folding and evolution.
Researchers created an integrated cellular map of a mouse model heart, pinpointing cells and pathways involved in fibrosis. The study identified myofibroblasts as the major drivers of scarring, but also discovered a 'matrifibrocyte' form that may prevent scar resolution.
Researchers developed new lager yeasts by hybridizing brewer's yeast with Patagonian wild strains, which resulted in enhanced fermentation capacity and unique aroma profiles. The study provides a way to expand the range of currently available beer styles through wild yeast exploration.
Researchers used machine learning to integrate high-throughput transcriptomic, proteomic, metabolomic, and lipidomic profiles to identify four distinct molecular profiles of Alzheimer's Disease. These profiles were associated with varying levels of cognitive function and neuropathological features.
A recent study by Tokyo Medical and Dental University researchers suggests that a specific variant of the CARD9 gene prevalent across northern China, Korea, and Japan may have originated from a common ancestor. The c.820dup variant was found to be relatively common in China and has been estimated to be between 2,000 and 4,000 years old...