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.
The John Innes Centre has been awarded £21.5m in funding to support four precision breeding projects, aiming to reduce emissions and strengthen crop resilience. These projects will help protect two major agricultural crops from diseases, enhance the nutritional content of tomatoes, and develop sustainable sources of rubber.
Researchers developed polygenic risk score models to predict breast cancer risk in women of African ancestry, improving accuracy and performance compared to existing models. The new tools could lead to earlier screening, tailored care, and increased survival rates for high-risk women.
Researchers at Salk Institute debut an epigenetic catalog that shows genetic inheritance and life experiences have distinct effects on various types of immune cells, shedding light on individual differences in immune responses and potential new personalized therapeutics.
The G protein-coupled estrogen receptor (GPER) is a key regulator of endocrine resistance in breast cancer, promoting tumor survival and proliferation. Elevated GPER expression is associated with poor therapeutic response and disease recurrence, highlighting its role as a coordinator of tumor-stroma interactions.
A University of Oklahoma researcher has been awarded a competitive NIH grant to advance tribally defined genomic research approaches. The project, called Partnerships for Indigenous-led ELSI Research (PIER), will strengthen meaningful collaboration with Indigenous communities and promote Indigenous-driven approaches to genomic research.
The Assessing Genetic Diversity in Africa (AGENDA) project has generated whole-genome sequence data from over 1000 individuals from underrepresented communities, aiming to correct the imbalance in global genomic datasets. This effort will help predict disease risk and tailor treatments more effectively for African populations.
A team of researchers from Institute of Science Tokyo developed a novel enzyme, MAN, that efficiently converts common nucleotide substrates into RNA nucleotides with remarkable efficiency. This method simplifies the production of RNA building blocks by using inexpensive and stable polyphosphate as a phosphate donor.
The study provides direct evidence of large-scale human mortality during the Plague of Justinian and offers insight into how people moved, lived, and became vulnerable within ancient cities. The mass grave at Jerash, Jordan, helps resolve a long-standing puzzle about ancient community dynamics.
Researchers have identified a metabolically sensitive cell subtype in the eye's drainage system that shows early signs of dysfunction in a genetic mouse model of glaucoma. The study provides what the editors say are fundamental findings highlighting a potential therapeutic strategy for preventing or slowing the development of glaucoma.
A two-step genome editing method integrates large human genomic fragments into mice, mimicking human regulatory landscapes. This platform enables the creation of physiologically relevant humanized models for therapeutic targets and disease research.
Researchers discovered a 'genome size–ecological function' differentiation pattern among cyanobacteria, identifying smaller genomes as 'streamlined types' that dominate in phosphorus-deficient environments and rarely produce toxins. This study proposes using a genome size threshold to initiate preventive measures before blooms occur.
A research team at Goethe University Frankfurt has compiled a catalog of human E3 ligases and mapped their relationships, revealing family-specific functions. The study identifies 40 additional E3 ligases suitable for PROTAC development, expanding the range of tissues and diseases targeted by degradation therapies.
eQTLs modulate gene expression through various molecular mechanisms, providing insights into disease etiology. eQTL analysis has elucidated the functional relationship between genetic variants and complex traits in diseases such as RA, T2D, breast cancer, and SZ.
A large-scale population genomic study has shed new light on the evolutionary history of the button mushroom (Agaricus bisporus), one of the most widely cultivated edible fungi in the world. Climate dynamics and a key gene for adaptive evolution and domestication jointly shaped the mushroom's diversity.
A study published in PNAS found that over 60% of pairs of damaging genetic variants can restore enzyme activity when combined, challenging long-held assumptions about genetics. This phenomenon, known as intragenic complementation, has implications for rare disease diagnosis and treatment.
A study found that increased bone morphogenetic protein signaling is linked to impaired neurogenesis in Alzheimer's disease, particularly in female mice. The research suggests that activation of BMP signaling may be a key factor contributing to the sex-based differences observed in AD.
The study created a critical framework for understanding the architecture of the genome and its association with gene function in cells. The 4DN Consortium integrated data from over a dozen techniques to compile an extensive catalogue of looping interactions between genes and regulatory elements.
Children's Hospital of Philadelphia researchers have developed a method to help cancer immunotherapies reach 'invisible' tumors. HLA-Shuttle is an engineered protein complex that restores antigen presentation in immunologically 'cold' neuroblastoma cells, identifying previously unknown targets across 30 genes linked to neuroblastoma.
A recent genomic study by Dr. Mayana Zatz and colleagues reveals that Brazil's admixed population may hold the key to understanding exceptional aging. The study identifies over 8 million novel genetic variants in the Brazilian population, with potential protective mechanisms against age-related diseases.
The journal Biological Diversity is seeking experts in various disciplines to address the global biodiversity crisis. The editorial board will comprise senior scholars, while the youth editorial board will include early-career researchers. The dual structure aims to combine strategic wisdom and innovative energy.
A new study found that people have moved pigs across the Pacific for millennia, introducing invasive species to Indonesia and beyond. The research used genomic analysis to track pig movements, revealing a complex history of human activity in the region.
Professor Dan Stein was a visionary who bridged neuroscience, clinical care, and philosophy to transform psychiatric research in Africa. His integrative approach produced scholarship of extraordinary range, with over 1,600 peer-reviewed publications and a Google Scholar h-index exceeding 220.
Researchers develop ddHodge, a geometry-preserving method that accurately reconstructs cell state dynamics. The technique reveals repeating processes like the cell cycle and identifies critical biological moments in embryonic development, tissue regeneration, and cancer progression.
A team of HSE researchers has created a comprehensive map of quadruplexes, unstable DNA structures involved in gene regulation. The study reveals that quadruplexes function in pairs, regulating tissue-specific genes in healthy tissues and cell growth and division in cancerous tissues.
Researchers analyzed solitary mason bee gut metagenomes to understand how urban environments shape diet, microbiome stability, pathogen exposure, and antibiotic resistance. The study found that bees' gut ecosystems containing both bacteria and viruses are more resilient than bacteria-only communities.
Flinders University researchers discovered a biological process that could explain some stillbirths and pave the way for early detection. The study found that molecules called circular RNAs build up in the placenta too quickly during pregnancy, compromising its ability to nourish the baby.
Researchers developed RNACOREX, a new open-source software tool that identifies gene regulation networks in cancer. The tool analyzes thousands of molecules simultaneously to detect key interactions, providing an interpretable molecular map that improves understanding of tumors.
Researchers analyzed DNA captured on air filters since the 1960s to track changes in ecosystem biodiversity. The study found a clear decline in biodiversity from the 1970s to the early 2000s, linked to human activities such as forest management.
Researchers at The Hospital for Sick Children have identified a non-coding gene called CISTR-ACT that regulates cell size. By exploring its molecular mechanism, the team found that CISTR-ACT guides a protein called FOSL2 to bind to other genes, controlling cell growth and development.
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
A study analyzed large-scale human ChIP-seq data to identify unmeasured transcription factor-tissue/cell type pairs, revealing significant gaps in current knowledge. These findings indicate that essential regulatory mechanisms may have been overlooked, emphasizing the need for strategic prioritization of measurement targets.
A £1.4 million funding has been secured by the University of Stirling to explore tissue remodelling processes in salmon, with a focus on reducing mortality linked to gill and skin health issues. The research will deliver practical tools for fish health and productivity while enhancing sustainability in the Scottish aquaculture industry.
Researchers at Arizona State University introduce powerful tools to analyze microbial family trees and biological data, strengthening microbiome research, disease tracking and environmental monitoring. The new software library scikit-bio provides a foundation for analyzing large biological datasets.
Researchers have identified the enzyme N4BP2 as the key driver of chromothripsis, a process in which cancer cells rapidly evolve and become resistant to treatment. The study reveals that tumors with high N4BP2 expression exhibit significantly more chromothripsis and structural rearrangements.
Researchers develop comprehensive method to connect diseases with underlying genetic machinery, revealing intricate gene networks that influence complex traits. The new technique provides actionable insights into how specific genes affect cell functions, shedding light on biological mechanisms and potential therapeutic targets.
A new study suggests that genetic differences passed down from ancient human ancestors and exposure to common chemicals could explain why some women are more likely to develop endometriosis. Researchers identified six genetic variants linked to the condition, which also occur in genes sensitive to modern pollutants.
The new PLAMseq technique enables simultaneous analysis of chromatin-associated proteins and their location in the genome, opening up new avenues for researching human diseases. This breakthrough could lead to a better understanding of epigenetic mechanisms underlying diseases such as cancer and neurological disorders.
The Spatial Touchstone project has developed a standardized framework for spatial transcriptomics analysis, providing critical metrics and quality control measures. The repository includes curated datasets from six tissue types, paired with an open-source software tool to compare samples across institutions.
A recent study found thousands of missing transcripts in people from non-European populations, potentially leading to new insights into disease risk and genetic variations. The study highlights a lack of global representation in current gene maps, built largely from European DNA sequences.
A study compares five DNA foundation language models across 57 diverse datasets to identify their strengths and weaknesses in predicting gene expression, identifying genomic components, and detecting harmful mutations. The findings highlight the importance of selecting appropriate models based on specific genomic tasks.
Researchers have identified regions of the human genome particularly prone to mutations, which can be inherited by future generations. The mutated stretches of DNA are located at the start point of genes and are more susceptible to errors during cell division.
Researchers created AI model popEVE that can identify disease-causing mutations in human proteins, even for unique cases. It ranks mutation severity across the body, helps doctors focus on most damaging variants first.
The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
A 15-member research team has gained insight into the DNA of the Northern root-knot nematode, a parasitic nematode that causes significant economic damage to many crops. The study reveals an unusual DNA repeat at the ends of its chromosomes, which may provide a clue to its ability to infect a wide range of plants.
Researchers at Children's Hospital of Philadelphia have identified four genes linked to osteoblasts and their ability to mature, which can affect bone mineral density. A polygenic risk score called genetic quantitative ultrasound speed of sound (gSOS) was also found to be associated with higher bone mineral density and reduced odds of ...
Researchers at UC Davis have discovered that Cabernet Sauvignon retains molecular marks from its ancestors after 400 years of clonal propagation. The study used advanced genome sequencing to assess the stability of epigenetic modifications, which can influence traits like fruit quality and stress tolerance.
The Ontario Hereditary Cancer Research Network has created a comprehensive provincial database to support research on cancers passed down through genetics. Ontarians at risk of hereditary cancers can now register for access to clinical trials, advocacy groups, and other resources.
A study published in Nature found that wild birds, particularly ducks, geese, and swans, are driving the current US bird flu outbreak. The viruses were introduced to North America via migratory birds and have become better adapted to infect wild birds since 2020.
Researchers have discovered that optical genome mapping can reveal hidden causes of pregnancy loss, including chromosomal changes in genes known to be linked to recurrent pregnancy loss. The study found structural changes in the genome that were missed by traditional genetic sequencing methods.
Researchers have made breakthroughs in overcoming immune reactions behind human rejection of transplanted pig kidneys, paving the way for more successful clinical trials. The study reveals three major immune responses against the pig kidney and identifies potential biomarkers as early-warning systems for rejection.
Researchers used human-induced pluripotent stem cell-derived kidney organoids to model nephronophthisis, revealing the Hippo signaling pathway's role in fibrosis. Inhibiting this pathway with drugs like verteporfin shows promise as a treatment option.
Researchers at Institute of Science Tokyo found that European eels have restored aquaporin proteins with broad solute permeability through a recent gene duplication event. The study revealed that the genes Aqp10.2b2 and b3 acquired functional diversification, enabling them to transport urea and boric acid similar to Aqp10.1.
Researchers identified a new subtype of T-cells that do not respond to current treatments and could impact clinical care. A genetic marker, ZBTB16, was found to be switched on in these cells, which can be used to identify them.
A novel methylation analysis method, called UMBS-seq, achieves both accuracy and gentleness, unlocking more reliable cancer biomarker detection. The method outperforms existing methods for 5-methylcytosine detection with low input DNA, preserving DNA integrity.
A new study reveals a conserved genetic region, the X-linked recombination desert (XLRD), that preserves species history through gene flow and may play a key role in speciation. The discovery opens new avenues for understanding reproductive dysfunction and infertility.
A recent UK study has highlighted the need for equitable investment and adoption of new innovations in brain tumor care. The research team found that genomic testing has expanded rapidly but many services are struggling to keep pace, leading to regional inequalities in access to advanced treatments.
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.
A new study finds that rare and common genetic variants counterbalance each other to maintain telomere stability. The researchers used data from 379,764 participants and found a compensatory genetic mechanism that prevents extreme shortening or lengthening of telomeres.
The study reveals lower genetic diversity and historical population sizes in the Southern Maned Sloth, while the Northern lineage faces rapid inbreeding due to deforestation. The findings offer critical insights for conservation of endangered species.
Researchers at University of Texas M. D. Anderson Cancer Center discover that inflammation is responsible for driving the earliest stages of lung cancer, identifying potential targets for early intervention and suggesting a promising approach to intercepting lung cancer development.