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 at the University of Bologna have identified a specific location and genomic context where DNA breaks occur due to topoisomerase I inhibition. This discovery could lead to new cancer treatments by inducing DNA damage and genomic instability in cancer cells.
Researchers developed a novel nanosensing technique to measure viral vector characteristics, enabling quality control of AAV vectors for safe and effective gene therapy. The approach uses nanopore sensing to detect defects in viral particles, offering potential solutions for reducing side effects and improving treatment outcomes.
Researchers have discovered a dynamic cross-kingdom horizontal gene transfer between plants and bacteria, transferring 75 genes that enhance carbohydrate metabolism and hormone synthesis. This finding opens up exciting possibilities for biotechnological applications in agriculture.
A multidisciplinary team developed GeneMAP to probe gene function in metabolism. They identified SLC25A48 as necessary for mitochondrial choline transport and associated it with eight human diseases.
Researchers combined DNA markers from two genotyping systems to improve genomic predictions and GWAS for 24 fruit traits. The results showed increased accuracy and detection power when using combined datasets, suggesting benefits to leveraging historical data.
A new system named SQUID, a computational tool created by Cold Spring Harbor Laboratory scientists, helps interpret how AI models analyze the genome. It reduces background noise and leads to more accurate predictions about genetic mutations.
A study by TUM researchers discovered four subtypes of Amyotrophic Lateral Sclerosis (ALS) with different molecular processes, including sex differences. The findings suggest repurposing an approved cancer drug targeting the MAPK pathway as a promising therapeutic approach for ALS.
A team of researchers, including OHIO's Nate Szewczyk and students, published a comprehensive package of papers in Nature journals that transform our understanding of human space biology. The studies reveal how molecular biology and precision medicine can guide humanity into more challenging missions beyond Earth.
A new study uncovers how different people respond to sepsis based on their genetic makeup, which could help identify who would benefit from certain treatments. The research found two groups of patients with opposite immune responses and identified the genetic regulators involved.
A genetic investigation of 64 child remains found at Chichén Itzá reveals that all the children were male, indicating related male twins were likely selected for ritual activities. The findings suggest a post-sacrificial burial site, with the sacrificed individuals having been chosen for a specific reason.
Researchers from Tokyo Medical and Dental University used long-read RNA sequencing to decode genetic intricacies and disease links. The study identified novel isoforms, cell-type-specific splicing patterns, and disease-linked transcripts associated with immune-related diseases.
Researchers reconstructed ancient genomes of Plasmodium vivax and Plasmodium falciparum malaria parasites to study their worldwide spread. The analysis revealed that European colonizers introduced P. vivax to the Americas, while military activities in Europe facilitated the spread of P. falciparum.
A new genetic analysis of Celtic burial mounds in Baden-Württemberg, Germany, confirms the long-held suspicion that two princes were biologically related. The study finds a close relationship between the two individuals and suggests that power structures among early Celtic elites may have been based on biological kinship.
The study reveals remarkable variation between primate Y chromosomes, showing rapid evolution and previously unstudied regions. The researchers found that over 90% of ape X chromosome sequences aligned to the human X chromosome, while only 14-27% of ape Y chromosome sequences aligned to the human Y chromosome.
Researchers create largest and most advanced multidimensional maps of gene regulation networks in the brains of people with and without mental disorders. The study uses postmortem brain tissue from over 2,500 donors to map gene regulation networks across different stages of brain development and multiple brain-related disorders.
Researchers have developed a new gene-editing system called multiplexed orthogonal base editors (MOBEs) to tackle complex diseases. MOBEs enable simultaneous installation of multiple point mutations across the genome, reducing the risks associated with traditional gene-editing tools like CRISPR-Cas9.
Researchers found that horns and antlers share fundamental aspects and likely originated from a single ancestral structure. The study supports the idea that headgear evolved as elaborations on this shared bony structure inherited from a common ancestor.
A groundbreaking IBD study aims to identify biomarkers for personalized treatment, monitoring, and prediction. Researchers will collect genomic data from 1,000 newly diagnosed patients in the UK over four years.
FutureNeuro, a leading SFI Research Centre, is expanding its research programme with a focus on diagnostics, therapeutics, and digital health. The centre aims to develop precision diagnostics, future treatments, and systems using real-time health data.
Researchers created GraSSRep and rhea, tools that outperform current methods for handling repeats and structural variants in metagenomic data. These methods use self-supervised learning and graph neural networks to analyze microbiome data, offering new insights into biological processes and potential applications in antibiotic resistance.
Researchers have discovered that medieval English red squirrels hosted the leprosy bacterium M. leprae, shedding light on potential transmission pathways between animals and humans during the Middle Ages. This finding highlights the importance of understanding animal hosts in predicting disease persistence.
The Hong Kong Biodiversity Genomics Consortium has launched a project to sequence the genomes of its eukaryotic biodiversity, which is rich in species but threatened by climate change. The first five genomes have been published in GigaByte Journal to coincide with International DNA Day.
Researchers at University of California San Diego School of Medicine have identified hundreds of new genes associated with tobacco use disorder, including those linked to psychiatric and medical conditions. The study also identified hundreds of potential drug candidates that could help treat the disease.
A mysterious plasmid, pBI143, found in 90% of human intestines, could be used to identify faecal contamination and offer insights into intestinal diseases. The discovery also highlights the prevalence of 'cryptic' plasmids in human gut microbiota.
A new study reveals that wildebeest populations which no longer migrate are less genetically healthy and more prone to decline. The loss of migration routes due to fencing and roads leads to lower genetic diversity, increased inbreeding, and reduced fertility.
Researchers have identified new genetic variants linked to susceptibility of cervical cancer-causing virus, raising the risk of getting cervical cancer from high-risk HPV infection. The study found polygenic risk scores to determine likelihood of having prevalent or persistent HPV infections.
Scientists have discovered genetic variants in BSN and APBA1 genes linked to adult-onset obesity, type 2 diabetes, and fatty liver disease. These variants are associated with a significant increase in obesity risk, highlighting a new biological mechanism for the condition.
An interdisciplinary team of researchers developed an AI system capable of deciphering genomic language and understanding its functional and regulatory grammar. The Genomic Language Model (gLM) learns from highly diverse metagenomic data, providing insights into gene functions, regulation, and evolutionary relationships.
Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.
The ACMG Foundation for Genetic and Genomic Medicine has presented seven Next Generation fellowship awards to promising early career professionals in medical genetics and genomics. The recipients include Xueyang Pan, Bianca Seminotti, and Adriel Yejin Kim, who will support their research projects with corporate donations from Pfizer, S...
A team of scientists at Pohang University of Science & Technology uncovered the molecular mechanism responsible for crossover interference during meiosis, a biological process that generates genetically diverse reproductive cells. The findings have significant implications for breeding and cultivating crops with specific desired traits.
Researchers studied Prorocentrum cordatum to understand its molecular processes, revealing a unique photosynthetic machinery that may help it adapt to changing light conditions. The findings could lead to improved understanding of harmful algal blooms and their role in climate change.
A new genetic marker for cardiomyopathy has been identified through whole genome sequencing, suggesting that tandem repeat expansions may cause four percent of cases. This discovery provides a promising lead for early detection and the development of precision therapies.
The National Genomics Data Center has established a series of core archiving repositories for collecting and archiving multi-omics data, including Genome Sequence Archive and Genome Variation Map. These resources support worldwide data submission, archiving, preservation, and sharing.
Researchers identified six ancient individuals with an extra copy of Chromosome 21 and another with three copies of Chromosome 18, indicating care and appreciation from their communities. These findings suggest that children with Down Syndrome and Edwards Syndrome were not stigmatized but rather recognized as part of their societies.
A study has identified 1,289 genetic markers associated with Type 2 diabetes, including 145 newly discovered markers. The research provides risk scores for diabetes complications and suggests potential genetic targets for new treatments.
Scientists have identified ocean viruses that can help trap carbon dioxide in seawater, using similar techniques to prevent methane's escape from thawing Arctic soil. The study reveals which viruses target the most important reactions in microbial community metabolisms.
A team of researchers from Texas Heart Institute and Baylor College of Medicine have made a significant discovery about the underlying molecular cell states within transplanted pediatric hearts. They found that donor-derived tissue-resident macrophages are crucial for graft acceptance, but their loss leads to allograft failure.
Researchers at CABBI developed a computational pipeline for identifying CRISPR/Cas-facilitated integration sites, which can pinpoint neutral integration sites in two to three minutes. This tool enables researchers to efficiently locate all the needles that align with their specific criteria, transforming the genome editing process.
A study analyzing ancient DNA from 33 individuals found two separate farmer-associated ancestries in the region, connected to China's Yangtze River valley and Yellow River valley. The genetic results mirror cultural differences between regions, suggesting separate influence spheres and connections to distinct initial migration routes d...
Scientists mapped genetic blueprints for 51 vertebrate species, including cats, dolphins, and birds, using novel algorithms and computer software. This discovery has huge implications for understanding human health and evolution, as it allows researchers to compare complete genomes and identify DNA sequence divergence.
Researchers have discovered genetic material of the pathogen Treponema pallidum in ancient Brazilian bones, indicating that humans suffered from diseases akin to syphilis over 2,000 years ago. This finding challenges existing theories about the spread of syphilis by Spanish conquistadors and suggests that treponematoses were already pr...
A study combines retinal imaging, genetics, and big data to estimate the likelihood of developing eye and systemic diseases. The researchers identified significant associations between retinal layer thickness and increased risk of various diseases, including ocular, neuropsychiatric, cardiac, metabolic, and pulmonary diseases.
Researchers have uncovered novel perspectives on domestic and wild cat evolution through the use of cutting-edge genome sequencing and assembly technologies. The study highlights distinct genetic changes that will aid in future disease studies and provide crucial information for those studying feline diseases, behavior, and conservation.
The project aims to develop a standardized Next Generation Science Storyline that can be delivered in any high school classroom, increasing science literacy and critical thinking among students. Pop-omics, a popcorn-based curriculum, will also provide hands-on lessons on machine learning and AI, connecting with the national AITC program.
A study published in Cell Genomics reveals that specific changes in CD4+ T cell categories and gene programs are associated with autoimmune diseases, including distinct patterns related to aging and sex. The findings provide a comprehensive catalog of CD4+ T cell changes linked to 20 different autoimmune diseases.
A team of scientists sequenced the full genome of a sea cucumber collected at a hydrothermal vent, revealing expanded gene families involved in DNA repair and iron metabolism. The research provides valuable insights into the unique adaptations of marine animals to survive in extreme environments.
A new study led by the Smithsonian identifies five new species of soft-furred hedgehogs from Southeast Asia, using DNA analysis and physical characteristics. The two new species, Hylomys vorax and H. macarong, are endemic to the endangered Leuser ecosystem in North Sumatra and Southern Vietnam.
A new species of pit viper, the Ayeyarwady pit viper, has been discovered in central Myanmar, exhibiting a blend of characteristics between its sister species. The discovery reveals that this species is highly variable, with varying degrees of morphological features.
Researchers from the Smithsonian National Museum of Natural History analyzed a 160-year-old woolly dog pelt to determine its genetic makeup. The study found that woolly dogs diverged from other breeds up to 5,000 years ago and were genetically similar to pre-colonial dogs from Newfoundland and British Columbia.
Rhoads' funded project aims to identify relationships between hepatic RNA processing and changes in systemic metabolism with caloric restriction. This research seeks to delay aging by exploring the beneficial metabolic effects of caloric restriction in a mouse model.
Researchers created a comprehensive map of the mouse brain using artificial intelligence and analyzed over 2.3 million individual brain cells. The findings help understand how genes are switched on and off to form different cell types, shedding light on human diseases like multiple sclerosis and neuropsychiatric disorders.
Lawson Health Research Institute's AI-led technology can diagnose rare genetic diseases with a blood test, taking its development global thanks to a $7.55 million grant. The technology has the potential to revolutionize healthcare by providing an accurate and non-invasive diagnostic tool for these complex diseases.
The international consensus report on precision diabetes medicine highlights significant advancements in prevention, diagnosis, treatment, and prognosis. The report also sheds light on knowledge gaps and provides a framework for future research.
Researchers developed a new technique called MAbID to study multiple mechanisms of gene regulation simultaneously, enabling the connection between different gene expression processes. This technology can be applied to various fields, including human development and disease research.
A team of scientists developed a technique to rapidly detect genetic changes in malaria parasites using portable MinION sequencers. They demonstrated the first end-to-end, real-time pathogen monitoring from clinical blood samples in rural, resource-limited malaria hotspots.
Scientists have identified 77 main cell types and around 650 cell subtypes in a single experiment, enabling research on embryonic malformations. The new approach reduces the number of animals used for analysis and allows for faster and more accurate study of genetic disorders.
Researchers analyzed genes and brain tissue of patients with Alzheimer's disease to find sex-specific differences in immune function, cellular metabolism, and communication between brain cells. The study suggests that these differences contribute to women's increased risk for the disease and its severity.
Researchers found that rare gene variants associated with inflammatory bowel disease (IBD) are less prevalent in African Americans, suggesting a different genetic contribution to the disease. The study highlights the importance of considering genetic diversity and admixture in IBD research.
A recent study has provided significant genomic insight into tar spot of corn, a destructive disease causing $1.2 billion in yield loss. The researchers identified over 100 novel effectors that play a crucial role during infection, warranting further investigation.