Articles tagged with Genomics
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 identifies the FGF14 gene as the most common genetic cause of late-onset ataxia in Quebec, a debilitating neurodegenerative condition. The discovery opens treatment possibilities and may lead to improved diagnosis for thousands of people worldwide.
Researchers analyzed 119 articles from the Lit Covid database to understand how researchers use ethnoracial categories in biomedical studies. The study found that many articles used terms 'race' or 'ethnicity' without clear definitions, leading to confusion and misinterpretation of research findings.
The German Research Foundation renewed CRC 1361 for an additional four years to explore mechanisms of DNA repair and genome stability. The consortium aims to elucidate how cells safeguard genetic information and promote human health by understanding DNA damage signaling pathways.
Johannes Gutenberg University Mainz has been awarded funding for three Collaborative Research Centers in the life sciences, including CRC 1551 and CRC/Transregio 355. The centers will focus on investigating polymer concepts in cellular function and heterogeneity of regulatory T cells in distinct microenvironments.
Researchers from Children's Hospital of Philadelphia identified several genetic variants associated with increased cancer risk in children with non-chromosomal birth defects. The study found that these variants were more commonly found in genes related to birth defects and cancer, suggesting a potential basis for early detection.
A new study led by UCSC scientists suggests that introners are the source of most introns across species, providing a plausible explanation for their vast majority. The researchers found evidence of introners in 5.2% of surveyed eukaryotic species and suggest they may be a fundamental mechanism driving genomic complexity.
Researchers at Oak Ridge National Laboratory have discovered genetic markers for autism, developed recyclable composites to drive the net-zero goal, and created a tool for real-time building evaluation. Additionally, they have made significant progress in growing hydrogen-storage crystals using a novel nano-reactor material.
ISB researchers found that the gut microbiome is responsible for variation in circulating blood metabolites across people. The study examined 930 blood metabolites and found that over 60% were associated with either host genetics or the gut microbiome.
A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or off genes, which led to the discovery of the cause of Congenital Hyperinsulinism. This breakthrough could unlock new causes of rare diseases and pave the way for improved treatments.
Researchers analyzed DNA from 13 Neandertals, finding evidence of a close-knit community with 10-20 individuals. Genetic data suggests that female migration played a key role in maintaining the group's cohesion, contradicting previous theories about male-dominated movements.
Genetic and genomic technologies can protect marine life by identifying illegally harvested seafood products and monitoring disease outbreaks. Assisted evolution and synthetic biology could also benefit ocean ecosystems by introducing beneficial species or manufacturing products in the lab.
Researchers have completed and released a chromosome-scale genome sequence of the Aldabra giant tortoise, providing a much-needed genetic resource for rescue efforts. The data will aid in breeding efforts, comparative studies with other tortoise species, and understanding the species' remarkable size.
Researchers created a new approach to predict genomic information in plant breeding, allowing for more diverse crop varieties. The strategy led to plants that outyielded current wheat varieties in multiple field trials, offering potential solutions to crop disease evolution and climate change.
The use of Frictionless Data enhances both machine readability and human engagement with scientific outputs, turning articles into dynamic entities. Interactive figures enable readers to directly interact with data points, making the publication process more efficient and reproducible.
Researchers from the Netherlands Cancer Institute have discovered a new 'mystery gene' responsible for maturing the actin protein, a main component of the cell skeleton. The findings shed light on the complex process by which proteins are completed and functional in cells, with potential implications for understanding muscle diseases.
The Leducq Foundation has awarded $7.5 million to UVA researchers, led by Mete Civelek, to investigate sex differences in atherosclerosis and $8 million to Coleen McNamara to advance immunotherapy for cardiovascular disease. These projects aim to improve understanding of heart disease and develop new treatments.
Researchers have reconstructed the genome of the common ancestor of all mammals, revealing key features such as 19 autosomal chromosomes and 38 sex chromosomes. The study provides insights into the evolutionary stability of gene order and orientation on chromosomes over millions of years.
A study on common ragweed found that its gene adaptation is key to its successful invasion of Europe. The plant's ability to resist local pathogens and hybridize with other species has allowed it to outcompete native species.
Researchers at NIH/National Human Genome Research Institute discovered a network of proteins necessary for restoring hearing in zebrafish through cell regeneration. The study identifies two families of transcription factors that work together to activate hair cell regeneration, offering potential insights into treating human hearing loss.
A multi-institute team used BGI Stereo-seq technology to create a single-cell resolution spatiotemporal map of salamander brain development, revealing key neural stem cell subsets and dynamic changes in spatial distribution. The study provides new ideas and guidance for regenerative medicine in the mammalian nervous system.
A team of researchers from Ritsumeikan University in Japan has elucidated the mechanism behind the liquid-solid phase transition of FUS protein that leads to ALS. They discovered a new therapeutic target, arginine, which suppresses FUS aggregation and could delay ALS progression.
The Association for Molecular Pathology has published consensus recommendations for clinical TPMT and NUDT15 genotyping assays, promoting standardization across laboratories. The report identifies a minimum set of alleles to include in clinical tests, enabling healthcare professionals to provide high-quality patient care.
Researchers have identified nearly 8,000 short RNA sequences that code for microproteins and peptides, opening new avenues for disease research and drug development. The technique used to discover these sequences provides a comprehensive map of human smORFs, highlighting overlooked functional components of the genome.
Scientists at UC San Francisco and Gladstone Institutes use CRISPR-based edit to render therapeutic T cells more resilient, overcoming a major factor limiting cancer immunotherapies' success. The discovery may help improve treatment of both solid and liquid tumors.
Mutations in EnhP disrupt a non-protein coding gene, causing pancreatic malformations and diabetes. The study sheds light on the hierarchical operation of enhancers in gene regulation.
A recent study analyzed millions of SARS-CoV-2 genomes and found that recombination occurs more frequently in the spike protein region. The researchers developed a new software, RIPPLES, to detect this phenomenon, which is crucial for understanding the evolutionary history of the virus.
A team of researchers at the University of Hawaii collected over 3,000 microbial samples from Waimea Valley's watershed, discovering that microbes follow the food web and are maintained within soil and stream water. The study also found that local distribution of a microbe predicts its global distribution.
Researchers develop technique to control pH at microsites, enabling high-throughput biomolecular synthesis and enzymatic DNA synthesis. This allows for increased experimental throughput and speeding up processes in DNA synthesis.
Leading scientists propose updated global guidelines to improve rare disease diagnosis using whole-genome sequence data, building on insights from Genomics England's rare disease participants. The guidelines aim to address the challenge of interpreting non-coding region variants and provide a framework for standardizing diagnoses.
The Mount Sinai Hospital has been awarded $4.2 million over five years to establish a Proteogenomic Data Analysis Center, which will help identify potential biomarkers and drug targets for cancer and new insights into cancer biology.
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.
The California Conservation Genomics Project is generating high-quality data to inform conservation policy, mapping genetic diversity across the state's diverse ecosystems. By analyzing over 22,000 genomes, researchers aim to identify critical habitats for protection and create a snapshot of genomic biodiversity.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
A novel single-cell RNA sequencing technique, TAS-Seq, has been developed to provide higher-precision data than current methods. The new method detects more genes and identifies highly variable genes, making it a sensitive high-throughput scRNA method.
Genomics offers vital support for reversing ecosystem decline by improving seed sourcing practices under climate change and screening for threatened species. The technology also enables the detection of invasive weeds and animals, as well as tracking of soil microbes that support life on earth.
Scientists discovered a new species of giant filamentous bacterium, Thiomargarita magnifica, with DNA clustered within membrane-bound compartments. This unique organism challenges traditional understanding of bacterial morphology and genomic complexity.
Researchers analyzed DNA of Demodex folliculorum mites living in human hair follicles, finding unusual body features and behaviors due to their isolated existence. The study suggests these mites may transition from external parasites to internal symbionts as they shed unnecessary genes and cells.
Researchers studied ant brains using single cell technology, revealing functional specialization and complementary brain cell composition differences among individuals. The study found specialized neurons for learning and memory in worker ants and optic lobe cells in male ants.
Ancient DNA analysis reveals that an epidemic devastated a local community in Kyrgyzstan in 1338 and 1339, linked to the Black Death. The study suggests that the Black Death's ancestor originated in Central Asia, close to Lake Issyk Kul.
Scientists have identified the DOMINANT AWN INHIBITOR (DAI) gene in sorghum, which regulates the absence and shortening of awns. The gene encodes a protein that negatively regulates awn formation as a transcription factor, with implications for breeding modern awnless cultivars.
Researchers from Uppsala University have identified new inherited retroviruses in the koala genome, including novel ERV lineages related to the squirrel monkey retrovirus. These findings provide a potential model for studying retroviral establishment and health effects in real-time.
Researchers from OIST developed a PCR test that detects nine sex-determining genes in Okinawa mozuku germlings, enabling the identification of male and female haploid and diploid stages. This allows for crossbreeding to create heat-tolerant strains, improving yields and addressing issues with detachment and contamination.
Researchers analyzed 16 ancient genomes from Wallacea, revealing striking differences between regions and a previously unknown ancestry contribution from Mainland Southeast Asia. The findings suggest multiple human dispersals into Wallacea and major implications for the understanding of Neolithic dispersals into Island Southeast Asia.
A genetic variant in nearly 30% of Greenlanders is linked to high cholesterol and an increased risk of cardiovascular disease. The variant, p.G137S, has a marked population-level impact, increasing the risk of high cholesterol and cardiovascular disease for up to 30% of the Greenlandic population.
Researchers identify genetic determinants of immune phenotypes in type 1 diabetes, highlighting 11 genes as potential candidates for new treatments. Genetic variants affecting T-cell composition and cytokine production were found to be significantly involved in the disease.
A new study finds that polar bears and brown bears have a complicated evolutionary history due to interbreeding. The analysis of modern bear genomes and ancient DNA from a 115,000-year-old tooth reveals gene flow from brown bears into polar bears, challenging previous hypotheses.
Researchers studied meiotic cohesin complexes' effect on chromosome structure and genomic integrity in embryonic stem cells. Maintaining adequate levels of REC8 and STAG3 factors ensures chromosomal stabilization and sister chromatid cohesion.
A team of researchers has identified the ancient bird species behind giant prehistoric eggs in Australia, resolving a years-long debate. The study found that the eggs belonged to a unique duck-like line of megafauna known as the 'Demon Ducks of Doom', which was laid by the Genyornis newtoni bird.
Researchers linked high mutation rates in children to errors in the biological father's sperm cells. Eight of 12 families with hypermutation were traced back to their fathers' chemotherapy treatments. These cases highlight the need for further investigation and potential measures, such as sperm freezing before treatment.
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.
Researchers have mapped altered protein-protein interactions resulting from cancer-causing mutations, identifying potential targets for anticancer drugs. The study reveals how specific mutations can rewire the cell's interaction machinery, leading to oncogenic programs.
Researchers have used a data-sharing innovation to categorise 16 uncertain BRCA variants as benign or likely benign, potentially allowing women with these variants to skip invasive surgeries. This could lead to thousands of people avoiding difficult treatments for no reason.
Researchers identified one to three major genes influencing flowering time in chickpea's wild relatives, enabling locally adapted varieties with improved drought and heat tolerance. This breakthrough study, published in Agriculture journal, will aid future breeding efforts and explore genetic variation for flowering time.
A new study found that Black kidney transplant recipients exhibit a faster clearance rate of tacrolimus, an immunosuppressive drug. The study suggests that considering both sex and race when dosing tacrolimus may reduce adverse effects and enhance transplant outcomes.
Researchers found that different animal species, including humans, mice, giraffes, and tigers, accumulate similar numbers of genetic changes over their lifetime. The study supports the theory that somatic mutations play a role in ageing, with longer lifespan species experiencing slower mutation rates.
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.
The UNC Charlotte team developed a universal AI algorithm called AutoClass to clean noisy single-cell RNA sequencing (scRNA-Seq) data. The algorithm effectively removes noise and enhances downstream analysis in multiple aspects, demonstrating its robustness and scalability.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
Researchers found that mutation frequencies in mitochondrial DNA of developing egg cells are lower and increase less with age compared to non-reproductive cells. This suggests a protective mechanism may keep reproductive cells relatively stable, potentially related to human propensity to reproduce at later ages.
A multidisciplinary team analyzed ancient DNA from the Carpathian Basin to reveal clues about the Avars' origins. The research found that the Avar elites had ancestry from Northeast Asia and the North Caucasus, suggesting a rapid trans-Eurasian migration