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 have developed a statistical model to quantify the weight of fingerprint evidence, paving the way for its full use in courts. The current method relies on subjective certainty, not supported by logic or data.
Researchers at Kimmel Cancer Center found that cyclin D1 overexpression associates with chromosomal instability in luminal B breast cancer. Elevated levels of cyclin D1 promote genetic breakdown known as chromosomal instability, which correlates with this subtype.
A global survey aims to capture public attitudes towards sharing genomic results, with implications for genetic research and healthcare. Participants will provide their views on the ethics of genetic testing and data sharing.
Scientists discovered a new link between mutations in an evolved gene module and syndromic autism, specifically Joubert syndrome. The study found that alterations in cellular primary cilia led to malformation or underdevelopment of the cerebellum and brainstem.
A study by UT Dallas criminologist Dr. J.C. Barnes found that genetic influences play a larger role in life-course persistent offending than environmental factors. For adolescent-limited offenders, environmental factors were more prominent.
Aria Diagnostics published peer-reviewed data for a new noninvasive prenatal test that accurately detects Trisomy 21 and Trisomy 18 with improved efficiency. The technology offers significant improvement over existing approaches, enabling cost-effective and scalable analysis of cell-free DNA in maternal blood.
A team of Yale researchers found genetic signatures of the extinct species Chelonoidis elephantopus in over 1600 tortoises, suggesting direct descendants may still exist. The discovery could allow for the resuscitation of the species through intensive breeding of hybrids.
Researchers used nanoCAGE technology to identify precise transcription start sites for over 900 olfactory receptor genes in the mouse main olfactory epithelium. The study found hundreds of non-coding RNAs associated with olfactory receptors, suggesting their potential role in regulation.
Researchers at Michigan State University used advanced DNA testing to confirm the presence of brucellosis in skeletal remains from medieval Albania, suggesting the disease was endemic in the region since the Middle Ages. The findings provide valuable insights into the history of infectious diseases and their impact on human health.
Scientists found that the Nile crocodile is not a single species but rather two distinct species living side-by-side. The discovery highlights the need for separate conservation strategies for each species due to their unique characteristics and declining populations.
The POBASCAM trial found HPV testing to be more sensitive and effective at detecting precancerous lesions, with fewer high-grade cervical lesions and cervical cancer in the second round of screening. HPV testing can lead to earlier detection and treatment of lesions, improving protection against cervical cancer.
Scientists at Johns Hopkins have found that PARP inhibitors can block the ability of pre-leukemic cells to repair broken DNA, leading to their self-destruction. The treatment has shown promise in clinical trials for patients with aggressive myeloproliferative disorders.
Researchers obtained full DNA profiles from eight backpacks containing pipe bombs and matched them with volunteers who handled the bags for a week. This method, called consensus profiling, can help rule out DNA traces from others.
Researchers at the University of Utah have identified a gene associated with frequent herpes-related cold sores. The C21orf91 gene is linked to susceptibility to HSL, and variations in this gene may predict or prevent cold sore outbreaks.
New research published in BMC Research Notes found that snow leopards in the central Himalayas have a much lower population size than previously estimated. Genetic analysis of snow leopard scat samples revealed only 19 out of 71 original samples were actually P. uncia, with most coming from nine individuals.
Researchers chart gene expression in human brain from fetal development to aging, revealing coordinated changes that shape brain structure and function. The study found reversible gene expression changes after birth and during Alzheimer's disease, with distinct patterns of change at different life stages.
A massive study found hundreds of genetic differences between males and females as their brains develop in the womb. Genes associated with psychiatric illnesses are expressed before birth, suggesting a complex link between genetics and mental health.
Researchers find that the brain's responses to movies reveal a detailed code that is the same for all individuals. A new method called hyperalignment allows activity patterns in one individual's brain to be decoded by comparing them to patterns in other people's brains.
The study replicated approximately 75% of the expected associations, demonstrating high-quality findings from self-reported data. 23andMe's web-based platform enables researchers to investigate hundreds of genetic factors in dozens of diseases efficiently and cost-effectively.
Gordon, a high-performance supercomputer using large amounts of flash-based SSD memory, is being made available to US academic researchers. The system will handle massive databases with up to 100 times faster speeds than traditional hard drive disk systems.
A new study published in The Journal of Molecular Diagnostics has demonstrated the feasibility of focused fetal gene expression analysis of target genes found in amniotic fluid. The analysis could be used to monitor fetal development and determine whether fetal organ systems are developing normally.
Researchers use Fourier transform infrared-attenuated total reflection spectroscopy to identify infected trees with 95% accuracy. The method is faster and cheaper than current DNA testing, but further differentiation between diseases is needed.
Researchers identified the NBEAL2 gene responsible for Gray Platelet Syndrome, a rare blood disorder characterized by gray platelets. The discovery enables early diagnosis with a DNA test, improving patient care and treatment options.
Scientists at the European Molecular Biology Laboratory have discovered a protein complex called condensin that keeps chromosome arms folded and easy to transport. This discovery may lead to a better understanding of how chromosomes are organized during cell division, with implications for our own cells' ability to divide properly.
A new study has found that variations in the CNR1 gene are associated with longer gaze durations when looking at happy faces. This discovery sheds light on the neural basis of social behavior and may have implications for understanding autism spectrum conditions.
Researchers developed BeeSpace Navigator, a free online software that uses semantic indexing to extract gene information from academic papers. The tool allows biologists to create custom searches and filters to find specific data, making it easier to interpret gene function.
A new study has reduced the threat level for caribou in Alberta's oilsands country by revealing that their survival isn't as threatened as previously thought. The researchers found that it is not merely the presence of roads and cut lines, but the intensity of human activity such as noise levels that has the biggest effect on the animals.
A clinically extensive study of 1000 families with one autistic child and one unaffected sibling validated the importance of spontaneous causal mutations in autism. The study estimates a minimum of 250 to 300 locations in the human genome where gene copy number variation can give rise to autism spectrum disorder.
Researchers at the Smithsonian Institution have found that whale sharks can be gregarious and gather in large numbers to feed on dense patches of fish eggs. The team's DNA barcoding analysis revealed a previously unknown spawning ground for little tunny, a member of the mackerel family.
Researchers at Yale University discovered a link between a genetic variation and the formation of brain convolutions, a hallmark of human intelligence. The study found that a deletion of two genetic letters in the LAMC3 gene was responsible for abnormal brain development in Turkish patients.
Advances in technology have reduced sequencing gene costs to $1,000, but analyzing genomic data for personalized medicine remains costly. New trends in bioinformatics, such as commercial drug discovery and collaboration, are helping reduce the burden.
The Virginia Tech study provides a comprehensive rating system for adult football helmets, with the Riddell Revolution Speed earning the highest '5-star' rating. Five helmets received the '4-star' rating, including Schutt ION 4D and Xenith X1, which showed significant reductions in concussion risk.
A new study funded by the National Institute of Justice will investigate the issue of untested rape kits in Houston and develop strategies to solve the problem. The project includes collaboration between researchers from Sam Houston State University, the University of Texas at Austin, and law enforcement agencies.
Researchers at North Carolina State University have found a specific gene in corn associated with resistance to three important plant leaf diseases. The glutathione S-transferase gene is linked to modest levels of resistance to Southern leaf blight, gray leaf spot, and Northern leaf blight.
Researchers at the University of Utah Health conducted a comprehensive study finding no evidence of XMRV in CFS patients or healthy controls. The study's results contradict previous findings that linked the retrovirus to CFS, and experts emphasize the need for further research into potential infectious agents associated with the disease.
A new short Comparative Genomic Hybridisation (CGH) method enables comprehensive analysis of all chromosomes and detection of chromosomal anomalies. The technique, developed by Mariona Rius, has shown an implantation rate of 60%, successfully resulting in a pregnancy for a woman with two chromosomal translocations.
Researchers identified a new treatment for periodic fever syndrome, targeting the body's immune response. The therapy shows promise in reducing fever and inflammation symptoms without increasing flare-ups, differing from current corticosteroid treatment. A larger clinical trial is planned to validate the findings.
The AAAS website provides detailed insights into US students' science knowledge, including incorrect ideas they hold. The site features test questions and analysis of correct and incorrect responses, helping educators identify gaps in understanding and improve instruction.
A large-scale study identified four new genes linked to Alzheimer's disease, adding to the existing pool of genes that contribute to the risk. The findings provide valuable insights into the disease's underlying mechanisms and may lead to the development of more effective treatments and preventive measures.
A consortium of researchers has identified four new genes associated with an increased risk of developing Alzheimer's disease. The study analyzed over 54,000 individuals and found that these genes contribute to the disease by disrupting brain biochemistry. Understanding the role of these genes could lead to the development of new treat...
Michigan Technological University researchers found an immigrant wolf in Isle Royale's gene pool through DNA analysis of scat samples. The introduction of new genes led to a decrease in inbreeding and increased survival rates among the wolves.
Researchers found that tumors with defects in DNA repair systems are less likely to recur post-surgery, reducing the need for chemotherapy. The study suggests testing for defective DNA mismatch repair and KRAS gene mutations to guide treatment strategies.
A study published in Fungal Genetics and Biology reveals that morels have a long history of being appreciated by humans, with a 129-million-year timeline tracing back to the Cretaceous Period. Morels have evolved into 177 related species, with the Pacific Northwest serving as an evolutionary hotspot.
New research in hair dyeing aims to create longer-lasting, more-natural-looking colors using nano-sized colorants. Gene therapy is also being developed to reverse gray hair, offering new prospects for a younger appearance.
The Lancet Infectious Diseases article explores possible explanations for NDM-1 cases in Balkan countries. Authors suggest two hypotheses: independent emergence or import from the Indian subcontinent via medical tourism.
Researchers studied 437 family members aged 8-93, finding a strong link between active music listening, creativity, and genetic variations associated with AVPR1A gene. The study provides molecular evidence of sound's role in social communication and attachment behavior.
International team of scientists has discovered a new phylum, Xenacoelomorpha, which rewrites the evolutionary history of animals. The discovery shows that simple marine worms like Xenoturbellida and Acoelomorpha are more closely related to complex organisms like humans and sea urchins than previously thought.
A new inexpensive, accurate, and practical diagnostic test for Turner syndrome has been developed by Yale School of Medicine researchers. The test can detect X-chromosome abnormalities in girls and can be done in a doctor's office using cheek swabs or newborn screening blood spots.
A new gene test has identified GFPT1 as a crucial cause of Congenital Myasthenic Syndrome (CMS), a rare genetic condition affecting signal transmission between the brain and muscles. The test allows for earlier treatment with cholinesterase inhibitors, offering an effective therapy that can be taken through life.
Scientists at Smithsonian Institution and Ocean Science Foundation used genetic analysis to identify 10 distinct species of blennies (Starksia) previously thought to be three. The discovery sheds light on the complexity of Caribbean reef life, with widespread species exhibiting geographically restricted ranges.
The study provides insights into how ants develop into queens or workers, shedding light on invasion biology and potential pest control methods. Analysis of the Argentine and red harvester ant genomes suggests chemical modification of DNA may play a key role in this process.
Researchers found that a single DNA variation helps protect African-Americans from coronary artery disease, with those having the alternative genetic code having a fivefold reduction in artery narrowing or clogging. The protective effect is even more pronounced when individuals inherit two copies of the guanine gene variant.
A new study reveals that a biomarker test for DNA methylation is technically feasible and could aid in earlier and more precise diagnosis of melanoma. The test distinguishes malignant melanomas from non-malignant moles, with high predictive value.
Researchers at JILA disprove the popular theory that DNA's backbone needs a small gap or loose ends to extend by 70% when subjected to 65 picoNewtons of force. The new study uses a novel test structure to demonstrate that the mechanism behind overstretching is the same for both nicked and intact DNA molecules.
Researchers at University of Michigan have found that an individual's genetic make-up determines their susceptibility to depression and response to stress. The analysis included nearly 41,000 participants and supported previous findings on the serotonin gene's relationship to depression.
A new genetic analysis published in PLoS One found that Franciscana dolphins entangled in fishing nets are more likely to be mother-offspring pairs, leading to reduced genetic diversity and reproductive potential. The study's findings have significant implications for the conservation of small marine mammals.
Researchers have discovered genetic mutations in the FP/TMEM127 gene linked to a specific type of tumor that forms within the adrenal gland. These variants were primarily found in patients with tumors of adrenal localization and were associated with an average age at development of 42.8 years.
HER2 test results can vary in up to 10% of patients when multiple tumor blocks are analyzed, according to Mayo Clinic researchers. This variability has significant implications for patient treatment and highlights the need for additional testing.
A novel test has been developed to accurately diagnose Turner syndrome in girls, allowing for timely management of co-morbid conditions. The new test can be performed on cheek swabs or newborn screening blood spots and has shown a high accuracy rate in detecting the disorder.
Researchers have developed a method to estimate human age from blood samples, which could be used to identify missing persons or solve crimes. The technique is based on the analysis of T cell receptors and has been shown to be highly accurate, with an error margin of nine years.