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.
Researchers developed a new method, EpiDamID, to analyze single cells and determine the location of modified proteins around which DNA is wrapped. This technique helps understand how PTMs affect gene expression and has implications for early development and disease research.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
The new T2T reference genome adds nearly 200 million base pairs of novel DNA sequences, including 99 genes likely to code for proteins. This completes the first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
The study evaluates genetic diversity of Channel Island deer mice before and after invasive black rat colonization and eradication. It aims to determine if native rodent conservation is a viable strategy for controlling invasive species
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 developed a transgene-free method to convert human pluripotent stem cells into 8-cell totipotent embryo-like cells, paving the way for advances in organ regeneration and synthetic biology. These cells can be used to regenerate human organs, study human embryonic development, and prevent pregnancy loss.
Researchers mapped the Australian black tiger prawn genome to improve farming productivity and disease resistance. The study also uncovered a unique Endogenous Viral Element (EVE) that helps fight viral infections in prawns.
A study reveals that new bird species arise in lowland habitats before moving higher into mountainous areas, where genetic differences accumulate. The research suggests that climate fluctuations, particularly during the Pleistocene era, contributed to the evolution of these high-altitude populations.
Researchers studied Indriidae lemurs to understand the impact of climate, body size, and color vision on hair evolution, providing a unique window into human hair evolution. The study fills gaps in our understanding of human evolutionary story by comparing non-human primate hair patterns.
A new molecular study of grasses reveals a clear picture of their evolutionary relationships, shedding light on the evolution of C4 photosynthesis involved in heat and drought tolerance. The research provides evidence that this type of photosynthesis evolved independently multiple times within different grass lineages.
A COVID-19 genetic risk variant inherited from Neandertals reduces the risk of contracting HIV by 27%. This variant is associated with fewer CCR5 receptors, which can lower the risk of HIV infection.
A recent study has identified 29 new genetic variants associated with acne, providing potential new targets for treatment and helping clinicians identify individuals at high risk of severe disease. The research, involving over 20,000 individuals with acne, also found a link between genetic risk and disease severity.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A groundbreaking genome-wide association study identified 123 genetic regions linked to migraine risk, including two specific genes targeted by recently developed drugs. The study provides insight into the biological basis of migraine and its subtypes, paving the way for new treatments.
Researchers used 3D mini-brain models to study the effects of three autism risk genes on neural formation and development. The study found that despite unique molecular mechanisms, the genes converged on affecting specific types of neurons, suggesting potential therapeutic targets for autism treatment.
Researchers at Children's Hospital of Philadelphia used deep learning to analyze whole genome sequencing data from African American patients with mental disorders. The model demonstrated over 70% accuracy in distinguishing between disorders and identifying multiple disorders.
A study published in Nature Microbiology reveals that a class of microbial enzymes contributes to ulcerative colitis. Researchers identified an overabundance of proteases from the gut resident Bacteroides vulgatus in nearly 40% of patients, which can exacerbate the disease when not treated with protease inhibitors.
A new study published in Genome Research has identified a group of genes that play a crucial role in building cellular components and may contribute to human longevity. Inhibiting these genes may increase lifespan by reducing their impact on the body later in life.
The new BD CellView Image Technology enables high-speed sorting of individual cells based on detailed microscopic analysis, accelerating discovery research in immunology, cell biology, and genomics. This technology has the potential to unlock new cell-based therapeutic discoveries and transform various fields of biomedical research.
Researchers developed reference materials with known viral loads to standardize PCR test results. The study found that Ct values varied among labs, highlighting the need for reference materials to compare and standardize results.
Researchers found patches of low mutation rates in the genome with essential gene over-representation, suggesting a protective mechanism. This discovery could lead to advances in plant breeding and human genetics, potentially helping breed better crops or fight cancer.
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.
A study by USF Genomics program found that prenatal exposure to the Rwandan genocide was associated with epigenetic modifications in genes linked to mental disorders. These 'chemical' changes can have a rapid response to trauma across generations, suggesting a possible link between historical trauma and modern-day mental health issues.
Researchers developed a new method to complete genetic data gaps using haplotype blocks, improving breeding efficiency in plants. The approach has shown comparable quality to collecting more information from DNA strands, reducing costs in animal and plant breeding.
Scientists have analyzed the lychee genome to uncover its ancient history and identify genetic markers for breeding programs. The study found that lychees were domesticated independently in two regions of China, Yunnan and Hainan, leading to early- and late-maturing varieties.
Researchers have identified genes associated with spinach's resistance to downy mildew and its levels of oxalates. The findings could help breeders produce disease-resistant varieties with more consumer appeal, improving spinach's market prospects.
The study developed a new strategy to sequence thousands of bacterial isolates with collaborators from economically-challenged countries, aiming to make genomic data more accessible. The 10,000 Salmonella genomes research consortium sequenced and analysed 10,000 Salmonella genomes from Africa and Latin America, strengthening global res...
Researchers at JGI have developed a new protocol to study the effects of genetic variations on traits, using DNA affinity purification sequencing technology. The protocol allows for rapid capture of transcription factor binding locations in the genome, providing insights into gene regulation and function.
A new study examines the genetic basis of longevity in Galápagos giant tortoises and finds that these animals have extra copies of genes that may protect against aging and cancer. The creatures' cells respond to stress in ways that could help prevent disease.
Researchers from the University of Rochester have further evidence that genes are evolving defensive mechanisms to counteract harmful genetic elements. The study found that specific genes developed weapons-like structures to combat 'parasites' in the human genome, highlighting the ongoing 'arms race' between these two forces.
A single-cell chromatin atlas for the human genome reveals how genes are turned on or off in different cells, a major step toward understanding the connections between genetics and disease. The findings identify disease-trait-relevant cell types for 240 multi-genic traits and diseases.
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.
A new machine learning model developed by Timothy Chan accurately predicts whether immune checkpoint blockade will be effective in patients with various cancers. The tool assesses multiple patient-specific factors, including tumor mutational burden and chemotherapy history, to predict response and survival outcomes.
A study by EPFL researchers reveals that CTCF sites within the HoxD cluster contribute to organizing genes into topologically associated domains, helping to organize developmental complexity. The dual function of CTCF binding sites varies depending on tissue type.
A genomic study of the Tarim Basin mummies in western China found that they were direct descendants of a once widespread Pleistocene population known as Ancient North Eurasians. The mummies show no evidence of admixture with other Holocene groups, forming a previously unknown genetic isolate.
Researchers at Osaka University analyzed data from over 200 health-related traits and diseases in an Asian population to identify specific genomic loci related to medical indications. The study found 14,000 genomic loci of phenotypic significance, including 5,000 novel discoveries.
Researchers identify key neurons and signaling pathway regulating female activity before ovulation. Discoveries could lead to new treatments for menopause that sidestep estrogen and reactivates the circuit with CRISPRa technology.
A retrospective study demonstrates that AI-powered Fabric GEM algorithm can detect over 90% of disease-causing variants in infants with rare diseases using whole-genome and whole-exome data. The algorithm also ranks specific genes associated with these variants, assisting clinicians in diagnosis.
Researchers developed an integrated framework combining single-cell and metagenomics to characterize microbes. The approach showed higher accuracy and precise binning, revealing more bacterial genera and intra-species diversity.
A UCL-led research team has identified an anti-viral gene that increases the risk of both Alzheimer's disease and severe Covid-19. The study found that a specific variant of the OAS1 gene amplifies inflammation in the brain, highlighting the importance of the immune system in both conditions.
Researchers analyzed genetic expression profiles of developing brain cells, finding that early tissue holds a pre-set map that develops into the cerebral cortex's characteristic topography. A new method for predicting cell fate has also been established, using chromatin structure to determine lineage before gene expression is possible.
Researchers create detailed atlas of mouse cerebrum, revealing distinct cell types and gene regulatory elements. The study provides insights into brain organization and function, with potential implications for human neurological diseases and traits.
Researchers sequenced genomes of 90 Eastern massasauga rattlesnakes and found that potentially damaging gene mutations were less abundant. This suggests that inbreeding might not be as detrimental as theory predicts, as beneficial mutations can easily purge bad ones. The study's findings could influence management decisions.
Recent genome research has led to significant progress in understanding human evolution, cancer, polygenic traits, and functional genomics. New laws and technologies are also being developed to balance privacy and public safety, enabling the use of consumer genetic data in law enforcement investigations.
Researchers analyzed ancient DNA from victims of epidemics in Mexico and found evidence of newly introduced viruses, including smallpox, measles, and mumps. The study suggests that European colonists brought these viruses to North America, contributing to devastating epidemics among Indigenous communities.
A new study using Neanderthal fragments suggests that generation intervals have fluctuated over the past 40,000 years, with human life history changing in response to environmental and cultural factors. The research found that Eurasian populations reproduced at a younger age than those in Europe, indicating a difference of 3-5 years in...
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
Researchers discovered azole-resistant Aspergillus fumigatus strains isolated from a tulip bulb have genetic recombination and resistance to multiple fungicide classes. Plant bulbs serve as an ideal niche for the pathogens to evolve their resistance, posing a global health threat.
A recent study found that genetic risk scores can help diagnose epilepsy in individuals with a single seizure, distinguishing them from those with other causes. The researchers analyzed data from over 9,600 individuals with epilepsy-related diagnoses and found a significant correlation between genetic risk and epilepsy diagnosis.
A recent study found that a person's genetic risk for developing certain diseases decreases as they get older. The researchers analyzed genomic data from 500,000 people and discovered that genetic factors play a more significant role in disease development early in life.
A 7,000-year-old human skeleton from Sulawesi has provided new insights into ancient human relations. The genome analysis shows a connection to the first modern humans to reach Oceania and a mix of Denisovan and Asian genetic components.
A University of Houston researcher is using cutting-edge techniques to study how testosterone affects the brain and social behavior. Using genetically modified African cichlid fish, Beau Alward aims to identify the specific genes and neurons involved in these processes.
A new study generated 137 whole-genome sequences from eight Middle Eastern populations, filling a major gap in international genomic projects. The researchers found 4.8 million previously undiscovered genetic variants, which could hold medical relevance.
Researchers developed a machine learning tool, BoostDM, that evaluates the potential contribution of mutations in genes to cancer development. The tool helps understand how tumors are caused at the molecular level and can facilitate medical decisions regarding therapy.
Researchers found that Papua New Guinean highlanders have physical traits counteracting hypoxia, such as smaller height and waist, larger lung volume and chest depth, and higher haemoglobin concentration compared to lowlanders. These adaptations may be a result of living at altitude for 20,000 years.
The 62nd Supplement to the Check-list of North American Birds includes updates to the classification of continent's bird species. Species splits occur in Barred Owl, Mew Gull, and Sedge Wren, with key differences in vocalizations and genetics.
A study by Princeton and Mpala scholars found a significant increase in obesity, diabetes, and cardiovascular illnesses among Turkana people who shifted from an animal-based diet to one rich in carbohydrates. The researchers attributed this 'mismatch' between the diet and human evolution to the drastic change in lifestyle.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
A study by OU researchers reveals that climate warming increases homogeneous selection in soil bacterial community assembly, which is linked to changes in drought and plant productivity. The findings have important implications for predicting and mitigating ecological consequences of climate change.