Articles tagged with Human Genomes
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 comprehensive analysis of 2,762 Indian genomes reveals a complex history of genetic mixing, endogamy, and population bottlenecks that shaped the country's genetic variation, health, and disease. The study found that most genetic variation in India can be explained by a single migration out of Africa about 50,000 years ago.
A genetic variant of ACSF3 has been identified as contributing to the co-evolution of increased human height and basal metabolic rate. This variant is found in humans but not in non-human primates, suggesting a link to the dietary shift towards meat consumption that occurred during modern human evolution.
Researchers analyzed DNA from four generations of a large family to understand genetic mutations and their transmission. They found that the rate of de novo mutations varied by over twenty-fold depending on genome location.
Researchers using multi-omics tools analyze blood-derived immune cells to chart disease heterogeneity in unprecedented detail. This approach enables exploration of pre-existing immune states shaped by past infections, environmental exposures, and genetic predisposition.
A new genomics tool, refget Sequence Collections, streamlines genomic research by standardizing reference sequences. This enables scientists to compare data more efficiently and accelerate medical breakthroughs.
A new global study found common genetic factors contributing to drug resistance in focal epilepsy, affecting 20 million individuals. Researchers identified specific genetic variants in CNIH3 and WDR26 genes associated with a higher risk of drug-resistant epilepsy.
Researchers used CRISPR interference to examine every gene in the human genome and discovered a new set of genes contributing to Parkinson's disease risk. The study identified the Commander complex, which regulates lysosomal function and is implicated in PD risk, offering opportunities for new treatments.
Researchers used genetic data and computational tools to identify genetic variants associated with asthma, finding differences between childhood- and adult-onset forms of the disease. The study provides insights into potential treatment targets for both types of asthma.
The study provides a comprehensive reference for six ape species, including siamang, Sumatran orangutan, gorilla, bonobo, and chimpanzee. The ape genomes offer new insights into human and ape evolution, genetic differences among species, and potential therapeutic applications.
Researchers have created the world's first Asian Immune Diversity Atlas, profiling healthy immune systems of diverse Asian populations. The study identified unique molecular properties and refined biomarkers for diagnosing diseases, which could help develop targeted therapies tailored to Asian patients.
Researchers at UTA uncovered how the flowerpot snake repairs its DNA and prevents harmful mutations, shedding light on genetic repair mechanisms that could deepen our understanding of human gene evolution. The study also reveals surprising findings about reproductive strategies and immune-related genes in reptiles.
Cells dynamically adjust nuclear pore complexes like a retail store opening more checkout lines to regulate genome access. Research findings suggest that protein creation and disposal systems control the amount of NPCs in cells.
A comprehensive genetic representation for over 2.5 billion people has been created, capturing genetic diversity and variations found in diverse populations. This pangenome reference aims to enhance early diagnosis and personalized treatments for genetic diseases prevalent in the region.
A synthetic retinoic acid-inducible gene I (RIG-I) agonist RNA has been shown to induce innate immune signaling and death of hepatocellular carcinoma cells in vitro. The addition of recombinant interferon-b potentiated this cell death, suggesting a potential new mechanism for treating patients with liver cancer.
Researchers at the University of Florida have discovered a novel genetic mutation associated with an accumulation of toxic proteins in Alzheimer's brains. The study found that people carrying a specific variation of this repeated DNA strand have more than double the risk of developing late-onset Alzheimer's.
Researchers have uncovered the Fulani people's genetic diversity, tracing their history back to the Green Sahara period. The study found correlations between culture, geography, and genetics, highlighting the importance of Fulani subsistence strategies in shaping their genetic landscape.
Dr. Kerry Ressler's research bridges the gap between molecular neuroscience and clinical psychiatry to understand PTSD's genetic architecture. Recent breakthroughs have identified over 100 significant genetic loci, representing a major step toward translating scientific discoveries into effective treatments.
Sheep have been an integral part of human livelihoods for over 11,000 years, providing meat, milk, and clothing. Genetic analyses reveal that early farmers deliberately selected their flocks for desirable traits, such as coat colour, demonstrating a significant impact on animal biology.
The Human Pangenome Reference Sequencing Project aims to accurately reflect human genetic diversity worldwide. With $14 million in NIH funding, the project will add genomes from an additional 200 individuals to its existing dataset of 550 diverse backgrounds.
Researchers comprehensively analyzed cis-regulatory elements to understand how they control cell-specific gene expression. The study reveals fundamental differences in enhancer and promoter function, highlighting the importance of machine learning models like MPRALegNet for predicting regulatory activity.
Mayo Clinic is developing foundation models with Microsoft Research and Cerebras Systems to personalize patient care, accelerating diagnostic time and improving accuracy. These multimodal models integrate radiology images and genomic sequencing data to transform clinical diagnosis and treatment.
This review highlights the transformative capabilities of single-cell and spatial genomics, providing critical insights into disease mechanisms and developing innovative therapies. The technologies enable comprehensive cell atlases, tracing the evolution of sequencing methods and incorporating multi-omics approaches, which significantl...
A new analysis of DNA from ancient modern humans in Europe and Asia has determined that Neanderthals interbred with modern humans from approximately 50,500 to 43,500 years ago. This period of interbreeding left Eurasians with many genes inherited from their Neanderthal ancestors.
Researchers have unraveled the precise timing and functional legacy of Neandertal gene flow into early modern humans. The study suggests that most non-African individuals harbor one to two percent Neandertal ancestry, with the majority tracing back to a single shared period between 50,000 and 57,000 years ago.
Researchers have generated a global polymorphism genetic map of VNTRs using high-depth whole-genome sequencing data from 8,222 genomes across 140 countries. The study identified over 2.5 million VNTR length polymorphisms and 11 million VNTR motif polymorphisms, offering new insights into the role of these elements in gene regulation.
A new framework developed by UCLA researchers suggests that genetic data from large libraries of sequenced human genomes can improve the predictive power of genetics in determining how well a patient will respond to commonly prescribed medications and the severity of any side effects. The study, which analyzed data from over 342,000 pe...
The WHO's Technical Advisory Group on Genomics published an article outlining challenges and actions to promote the use of genomics in public health. The group aims to increase awareness and provide technical guidance to accelerate access to genetic technologies, enabling preventive measures and targeted treatment for various diseases.
New research links ancient Jomon hunter-gatherer genetic signature to higher body mass index (BMI) among individuals in modern Japan. The study found strong support for the tripartite ancestry model, suggesting a significant influence of Jomon ancestry on BMI across populations.
Researchers have generated a topological map of the human genome, shedding light on how chromosomes spatially interact and communicate with each other. The study identified 61 specific regions that consistently interact across different cell types, helping organize the overall structure of the genome.
Scientists have discovered multiple instances of genetic interbreeding between Denisovans and modern humans, shaping early human history. Denisovan genes confer advantages in distinct environments, such as tolerance to low oxygen conditions and heightened immunity.
A new study uses CRISPR-Cas13 to identify nearly 800 noncoding RNAs that are functional and essential for cell function, including in cancer and human development. The researchers found that these RNA molecules modulate key pathways for cell proliferation and can serve as potential biomarkers and therapeutic targets for cancer treatment.
A new study introduces a multi-omics-based molecular classification of gastrointestinal stromal tumors, categorizing them into four distinct subtypes. The findings identify key genetic signatures and tumor suppressor genes that influence treatment response, providing a roadmap for personalized therapy strategies.
Researchers at Houston Methodist have identified a new strain of bacteria, Streptococcus dysgalactiae subspecies equisimilis (SDSE), linked to increasingly severe human infections. The study used integrative analysis to investigate the genome, transcriptome, and virulence of SDSE strains, shedding light on their molecular pathogenesis.
A new chromosome-scale reference genome of grass pea has been published, improving on earlier draft assemblies and offering potential for climate-smart agriculture. The updated genome allows for improved breeding and gene editing to develop varieties with improved agronomic characteristics or low toxin content.
Researchers develop novel mathematical formalization, the quantitative omnigenic model (QOM), to understand how mutations affect diseases. The QOM combines state-of-the-art genome analysis with biological insights to explain polygenic diseases.
Scientists have discovered a long non-coding RNA called CHASERR that regulates the production of the CHD2 gene, which is associated with neurodevelopmental disorders. The study found that patients with a deletion of this RNA had excessive CHD2 protein production, leading to severe intellectual delays and other symptoms.
Researchers found that active genes contribute to the stirring motion of the genome, with compaction affecting gene motion. The study reveals unexpected connections among gene activity, genome packing, and genome-wide motions.
Researchers found that transposable elements, known as LINE-1, play a critical role in regulating early human development. They help organize the DNA in the cell's nucleus and ensure embryonic cells progress normally through early stages. This discovery challenges previous views of these 'selfish DNA' elements.
Researchers propose utilizing human 3D skin models to assess drug binding properties across different skin types. Genetic variations among minority groups can lead to starkly different drug responses across races and ethnicities.
The NIH is establishing a network to integrate genomics into learning health systems, analyzing and improving the use of genomic information in patient care. The goal is to create generalizable knowledge and genomic medicine practices that can be shared with under-resourced settings, improving patient outcomes.
Researchers analyzed ancient genomes from the Oakhurst rock shelter in southern Africa, finding that the oldest genomes are genetically similar to San and Khoekhoe groups living today. The study reveals a long history of relative genetic stability until around 1,200 years ago when newcomers introduced new cultures and languages.
Over 12,000 years ago, humans in Europe increased their ability to digest carbohydrates by expanding the number of genes for enzymes that break down starch. This rapid increase in gene copies provided a survival advantage and tracks the spread of agriculture across Europe.
Researchers at the University of Hawaii have developed a new gene editing technology that can efficiently deliver healthy genes to the body. This method addresses limitations of current methods and has shown success rates of up to 96%, potentially leading to faster and more affordable treatments for various genetic diseases.
Scientists have discovered over 50,000 unusual DNA structures called i-motifs in the human genome, which are concentrated in key functional areas and may play a role in regulating gene activity. This finding offers new possibilities for diagnostic and therapeutic approaches to diseases such as cancer.
Researchers at Weill Cornell Medicine have discovered a connection between DNA markers and the aging process. The study found that specific retroelements in the human genome can act as epigenetic clocks predicting chronological age and may be involved in aging.
Researchers found that approximately 60% of genetic changes driving T-ALL cancer cells are non-coding changes, significantly altering the understanding of disease biology. This leads to innovative treatments, including new immunotherapies developed at CHOP and St. Jude.
Researchers developed an AI model called GROVER that treats human DNA as a text, learning its rules and context to draw functional information about the DNA sequences. The tool has the potential to unlock the genetic code and advance personalized medicine.
A new DNA methylation array can assess methylation levels of genes in imprint control regions, which regulate the expression of imprinted genes. The array has 22,000 probes and can identify potential links between environmental exposures and epigenetic dysregulation in diseases.
A new study published in Aging explores the potential of three large DNA methylation datasets to identify biological age signals in dogs. The researchers found that biological age methylation clocks are affected by population stratification and require heavy parameterization to achieve effective predictions.
Researchers developed an innovative gene-writing technology based on R2 retrotransposons, enabling efficient and precise targeted gene integration in human cells. The en-R2Tg system achieves high gene integration specificity at the 28S rDNA safe harbor site, reducing mutagenesis risks.
The RENEW system, launched in 2022, uses new research discoveries to pinpoint genetic variants causing rare diseases. Researchers successfully diagnosed 63 patients out of 1,066 undiagnosed cases with an average diagnosis time of 20 seconds.
Researchers at MIT develop a glassy, amber-like polymer that can store DNA at room temperature while protecting the molecules from damage caused by heat or water. The T-REX method allows easy removal of DNA without damaging it, making it a promising technology for storing digital information on DNA.
Scientists developed a new technique to map relationships between genes and regulatory elements, enabling them to determine when enhancers are active and which genes they control. This could lead to the identification of potential drug targets for genetic disorders.
Researchers at Clemson University discovered that certain Neanderthal-derived genetic variations are more common in people with autism than in the general population. These findings suggest long-term effects of ancient human hybridization on brain organization and function, potentially leading to earlier diagnostics.
A new study analyzed 500,000 individuals and found a strong statistical association between rDNA copy number and well-established markers of systemic inflammation, as well as kidney function. The research suggests that wider genome analysis could bring opportunities for preventative diagnostics and novel therapeutics.
A University at Buffalo-led research team has found that the same genes whose mutations gave rise to a low functioning male gorilla reproductive system may also be responsible for human male infertility. Researchers identified 109 reproductive-related gorilla genes that are often mutated when present in infertile men.
Scientists have discovered over 100 new genomic regions associated with blood pressure, explaining up to 12% of the differences between individuals. The findings also suggest potential new drug targets for blood pressure treatment and could lead to tailored treatments for hypertension.
A global genomic surveillance system using latest technologies and a 'One Health' approach can detect novel pathogens like avian influenza and antimicrobial resistance, catching epidemics before they start. This can inform vaccination campaigns, targeted treatments, and public health responses to prevent epidemics.
A new study has identified a deficit in the placental expression of IGFBP1 and low circulating levels as associated with insulin resistance during pregnancy. The findings suggest that measuring IGFBP1 levels could help identify people at risk of developing gestational diabetes early in pregnancy.
A new machine learning method called scGHOST has been introduced to identify single-cell 3D genome subcompartments and connect them to gene expression patterns. This can reveal the spatial organization of chromosomes within the nucleus, shedding light on how DNA structure influences gene expression and disease processes.