Articles tagged with Genome Mapping
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.
A new study standardizes the use of optical genome mapping (OGM) for patients with blood cancers, demonstrating its potential as a frontline test for diagnosing hematologic malignancies. OGM outperforms existing tests in detecting cancer-causing gene variants and identifying additional information that can improve patient outcomes.
Researchers developed a new taxonomy of bowel cancer using gene interaction networks, grouping tumors into six distinct clinical and molecular subtypes. This classification system could aid in precision medicine by tailoring treatments to individual patients.
Researchers have identified four genes in corn and Arabidopsis that regulate root growth in response to gravity, a trait essential for drought tolerance and efficient water use. The study's approach, leveraging genomic comparisons between distantly related species, has the potential to be applied to other traits.
Quantitative disease resistance is a promising approach to combat plant diseases, which cause an estimated 13% loss of global crop yields annually. Researchers aim to identify disease resistance mechanisms for important corn diseases and develop genetic resources for the broader maize genetics community.
Researchers studied cavefish genome-wide map of liver tissue to understand metabolism evolution and its potential applications for humans. The study found striking similarities in metabolic adaptations among cavefish populations, raising questions about universal adaptation mechanisms that could be triggered in other species like humans.
An international team led by BGI-Research has produced the first spatiotemporal maps of cellular dynamics in mice, Drosophila, zebrafish, and Arabidopsis using Stereo-seq technology. This breakthrough enables scientists to analyze the distribution and placement of molecules and cells in situ and over time.
The study provides a single-cell transcriptome map of 45 tissues and organs from long-tailed macaque monkeys, identifying 113 major cell types. This will improve the ability to pinpoint how to develop potential treatments for human diseases with greater precision.
Scientists have deciphered the helmeted honeyeater's genome and created a genetic map to guide advanced genetic rescue methods. The new tools allow for precise breeding decisions, reducing inbreeding and its negative impact on population health.
Researchers at UC Davis MIND Institute found a novel gene linked to autism spectrum disorder in newborns. The study analyzed DNA methylation signatures in the placenta, which reflected fetal brain development and early autism diagnosis.
Researchers identified seven rare structural variants affecting 31 genes in severely ill COVID-19 patients, shedding light on individual responses to the virus. These genetic variations may help explain differences in illness severity and suggest potential targets for early intervention.
The Earth BioGenome Project aims to sequence all eukaryotic life, with 9,400 taxonomic families expected to be completed by 2023. The project's progress has sparked excitement for its potential to prevent biodiversity loss and adapt food crops to climate change.
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
Researchers have introduced a new tool, Giraffe, that can efficiently map new genome sequences to a 'pangenome' representing many diverse human genome sequences. This approach allows for a more comprehensive characterization of genetic variations and reduces mapping bias.
The study, published in Nature Aging, found that sildenafil reduces the likelihood of developing Alzheimer's disease by 69% compared to non-users. Sildenafil also shows promise in treating the disease by increasing brain cell growth and decreasing hyperphosphorylation of tau proteins.
A recent study by NTU Singapore and Singapore General Hospital found that mutations in the DDX3X gene are responsible for chemotherapy resistance in some blood cancer patients. The study also discovered that STAT inhibitors can effectively kill lymphoma cells with DDX3X mutations, providing hope for new treatment options.
New research enables regionally relevant eating-quality traits to be selected early in breeding programs, saving time and effort. Genetic markers associated with 10 grain-quality traits have been identified, which can now be used by rice breeders in Latin America and potentially worldwide.
Researchers have sequenced the shea tree's genome, providing a valuable resource for genetic improvement and breeding. The new tool will enable faster development of high-performing shea varieties, addressing the species' slow growth rate and high demand.
Researchers at UC San Diego will use $6.4 million in NIH funding to study the influence of external signals on insulin production in beta cells. They aim to create a roadmap of genetic variations that can predict changes in insulin output, which may help prevent and treat diabetes.
Researchers at Rice University are developing novel computational approaches to track environmental microbiome dynamics over time, across species and after perturbations. The team will use biofilm-based 'species abundance networks' on scaffolds to observe how they form their own genome-exchange networks.
A team of researchers has developed a comprehensive 3D map of the rat heart's intrinsic cardiac nervous system, allowing for precise study of its structure and function. This breakthrough could lead to better treatments for severe heart disease and advancements in bioelectronic medicine.
Research at Lund University found that HLF gene's failure to shut down leads to inadequate lymphocyte development, resulting in a single type of immune defense. The study aimed to identify mechanisms for breaking down leukemia, an aggressive blood cancer with poor prognosis.
Researchers used gene expression analysis to map the functions of liver cells, revealing nine distinct types each specializing in its own tasks. This discovery may help clarify common liver disorders and provide insights into human health.
A novel mapping technique combines imaging and electroanatomical mapping to guide gene therapy injections into viable myocardium with reduced contractile ability, increasing blood flow in patients with refractory angina. This approach shows promise for repairing damaged heart muscle.
Researchers sequenced and analyzed the genomes of 38 wild snub-nosed monkeys from four endangered species, revealing reduced genetic diversity and a similar number of harmful mutations. The study identified hypoxia-related genes that enable these primates to thrive in high-altitude environments.
Researchers found a hidden polarity map within growing buds that directs cell growth, resulting in the unique shapes of rose petals and leaves. The system provides flexibility for organs to adapt to their environment and develop different functions.
The study reveals that disparate chromosome structures, rather than separate gene adaptations, underlie the separation of the two flycatcher species. Genome sequencing and analysis identified specific regions in the chromosomes involved in meiosis and gender cell production as key to understanding species divergence.
The study confirms the 'malaria hypothesis', which suggests that the sickle cell gene provides protection against malaria, allowing it to survive and thrive in areas of intense transmission. The global map shows a significant geographical overlap between the frequency of the sickle cell gene and malaria prevalence.
Researchers discovered previously unknown exons outside annotated genes in human proteins, suggesting complex gene regulation and increasing the risk of disease-causing mutations. This finding has significant implications for medicine, requiring extra caution when studying genetic phenotypes.
A new study reveals that the BRCA2 gene, linked to breast and ovarian cancers, plays a previously unsuspected role in human cell division. Inactivating the BRCA2 protein delays cells' progress through mitosis, suggesting a potential new target for cancer treatment.
The team sequenced the genome of Arabidopsis thaliana, a flowering mustard, enabling scientists to study genes controlling basic plant functions. The knowledge gained will aid in improving crops like wheat, corn, and soybeans, as well as identifying genes in the human sequence.
Researchers identify Dmrt1 as a crucial gene for normal mammalian testis development, providing insights into human testicular degeneration syndrome. The discovery also highlights surprising molecular conservation between vertebrates and invertebrates.
A specific gene, espin, is linked to deafness and abnormal behaviors in jerker mice. The mutated gene affects hair cell function, leading to false signals sent to the brain, which causes animals to move erratically.
Researchers have identified a new family of genes that encode proteins functioning as bitter taste receptors, providing crucial insight into the organization of the taste system. The study reveals that these receptors are expressed in cells that also express gustducin, a coupling protein critical for sending bitter signals to the brain.
Researchers have identified a gene, Irx4, that regulates the formation of heart chambers in vertebrates. The discovery provides new insights into cardiac development and opens up opportunities for discovering other genes involved in this process.
A research team has identified a gene that causes two forms of muscular dystrophy, a genetic disease characterized by progressive weakness and deterioration of skeletal muscles. The discovery may lead to improved diagnosis and treatment options for patients with these disorders.
Researchers found a genetic link to abnormal cholesterol absorption in individuals with sitosterolemia, a rare disease characterized by excessive plant sterol absorption. The study identified a specific gene on chromosome 2p21 that regulates selective cholesterol absorption.
A mutated tumor suppressor gene has been identified as the cause of familial juvenile polyposis, a disorder affecting about 1 in 100,000 people. The discovery may provide insights into colorectal cancer diagnosis and treatment.
Researchers at UNC-CH and Washington University found that only 3.3% of white patients carry the BRCA1 mutation, significantly lower than previous estimates. The study suggests that widespread screening is not warranted due to high costs and limited interpretability.
Scientists have mapped a defective gene responsible for hereditary amyotrophic lateral sclerosis (ALS) to chromosome 9, bringing closer the isolation of the gene and potential treatment options. The gene is suspected to be linked to similar neurodegenerative disorders, with symptoms appearing in childhood but never being fatal.
Researchers at Ohio State University have identified a new category of tumor suppressor genes associated with Peutz-Jeghers syndrome, a rare inherited disorder. The study found that the PJS gene produces a protein kinase enzyme, which is not produced in cancer-causing scenarios.
Researchers at the University of Pennsylvania School of Medicine have identified a molecular target of action for BRCA1, which induces the cell cycle inhibitor p21. This finding suggests potential strategies for treating breast and ovarian cancers, including screening drug compounds to activate p21.
Researchers at Oak Ridge National Laboratory use ORNL mice to study human cancers, identifying genetic causes and potential treatments. By comparing mouse genes to human genes, scientists hope to gain a better understanding of cancer development and improve diagnosis and treatment strategies.
Researchers at Penn State have discovered a new gene called KiSS-1 that suppresses the metastasis of melanoma in laboratory mice. The gene, located on chromosome 1, reduces the spread of melanoma by at least 50 percent of the time and may be the most potent gene to block or suppress metastasis in human cancer.
An international team of scientists has identified the gene responsible for anhidrotic ectodermal dysplasia (EDA), a condition affecting the development of skin, hair, and teeth. The discovery provides a molecular marker to identify female carriers and is a step towards developing therapeutic interventions.
Researchers at Duke University and the Institute for Cancer Research have located a second breast cancer susceptibility gene, BRCA2. This gene is expected to account for most of the remaining 50% of inherited breast cancers not caused by BRCA1. Women who inherit BRCA2 are at an 85% risk of developing breast cancer.