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 team of experts is conducting a genome-wide association scanning study to analyze DNA samples from 14,000 people with late-onset Alzheimer's disease and healthy controls. This study aims to identify common genetic variations that increase the risk of the disease, providing valuable insights into its causes.
The Human Genome Sequencing Center at Baylor College of Medicine has acquired seven additional Genome Sequencer FLX Systems from 454 Life Sciences, a Roche company. The center will use these instruments to analyze genetic changes in diseases such as cancer, heart disease, and asthma.
The Phase II HapMap contains over 3.1 million SNPs, three times more than the initial version, improving the detection of genetic variants involved in common diseases and exploring human genetic variation. Researchers have associated over 60 common DNA variants with risk of disease or related traits using this powerful new tool.
Dr. John Greally and his team will develop high-throughput assays using high-throughput sequencing to analyze the human epigenome. They aim to identify patterns of epigenetic regulators and gain insights into how these mechanisms control genes.
A new microarray technology enables fast and accurate enrichment of thousands of targeted genomic regions for high-throughput sequencing. This method replaces PCR-based approaches, allowing for the resequencing of entire genomes or specific genes in a cost-effective and efficient manner.
A tiny green alga has uncovered hundreds of genes associated with carbon dioxide capture and generation of biomass. The genome also sheds light on the capabilities of related algae that can produce biodiesel and biocrude as alternatives to fossil fuels.
The Chlamydomonas reinhardtii genome provides insights into photosynthesis, flagella function and human diseases such as dyskinesia and polycystic kidney disease. The research has the potential to advance bioenergy and environmental restoration by removing carbon from the atmosphere and toxins from soil.
A study on human, chimpanzee, and rhesus monkey genomes reveals that humans and rhesus monkeys have purged ERV-K copies from their genomes, while chimpanzees have retained a greater number of complete ERV-K copies. This finding suggests that genetic fluctuations due to bottlenecks and expansion play a role in shaping ERV-K dynamics.
The ENCODE project aims to identify and characterize regions of open chromatin, comprehensive characterization of the human transcriptome, and integrated annotation of gene features. This expanded effort will uncover even more exciting surprises about human health and disease.
Researchers identify ancestral origin of long DNA duplications in human genome, shedding light on evolution of disease-causing genetic mutations. The study reveals elevated rates of duplication activity at different times and highlights a small subset of core duplicons responsible for recent genetic innovations.
A new method using 454 sequencing has identified significant human genetic variation, including structural variations that play a crucial role in genetic diversity. The study found over 1000 structural variations in two individuals and suggests that these variations may have notable physical effects on an individual.
The complete Giardia genome has been unlocked, revealing several unusual proteins that could lead to the development of new drugs. The parasite's unique genetic makeup is thought to have allowed it to evade the human immune system and survive for long periods in contaminated water.
Researchers at JCVI have published the first true diploid genome from one individual, Craig Venter's, covering over 2.8 billion base pairs. The study reveals high genetic variation between two chromosomes within an individual and uncovers a total of 4.1 million variants, including 3.2 million SNPs.
Researchers identified a large fraction of functional transcription factor binding sites near human gene transcriptions, challenging traditional views of complex organism regulation. This discovery could aid in identifying transcriptional networks underlying cellular processes and diseases.
The National Human Genome Research Institute is funding two new centers to explore genomic mechanisms in vertebrate diversity. The centers will use the stickleback fish model to identify genetic signatures driving adaptive changes, with potential implications for human diseases.
Researchers discovered how bacteria produce desferrioxamines, leading to new ways to treat Fire Blight disease in orchards and human iron overload. The study also identified a more efficient method for producing the pharmaceutical desferrioxamine B.
The National Human Genome Research Institute has awarded over $15 million in grants to support the development of innovative technologies for DNA sequencing. The goal is to reduce the cost of sequencing a mammalian-sized genome to $100,000, enabling the widespread use of personalized medicine.
A recent genomics study has identified genes and gene families associated with human traits such as endurance running and cognitive function. The study found that gene copy number variations in humans may have contributed to the evolution of these traits, with some genes being unique to the human lineage.
A study published in Nature Genetics has identified three genes associated with restless legs syndrome (RLS), a condition characterized by an urge to move and paresthesia in the legs. The findings provide new insights into the genetic causes of RLS, which affects up to 10% of people over 65 years old.
A Cornell study found evidence of recent human adaptation, with 101 regions of the human genome showing strong selection signs. These include genes related to skin pigmentation, muscle attachment, and immune system function.
A study by Johns Hopkins researchers found that neutral genetic drift contributed significantly to the human genome, with mitochondrial DNA elements accumulating and spreading across populations. The study suggests these neutral elements had little impact on human health and fitness.
The sea anemone genome shows similarities with the human genome, providing a new view of our common ancestors. The study found that many genes are conserved across species, allowing scientists to infer features of the ancestral genetic blueprint for animals.
Researchers at Weill Medical College have successfully cloned a mouse genome, paving the way for potential treatment of low sperm count in infertile men. The technique involves replicating the male genome, which could increase chances of conception and reduce embryo wastage.
The NIH has awarded $3.4 million to support the development of innovative technologies for exploring the genomic underpinnings of cancer. Eight research teams will focus on analyzing methylation, epigenomics, and gene expression patterns in various types of cancer.
The DOE JGI has secured a five-year extension with an option for five more years, allowing expansion of its 80,000 sq ft facility in Walnut Creek. The new addition will feature administrative and informatics staff, as well as an education outreach laboratory.
Researchers at Fred Hutchinson Cancer Center studied an ancient retrovirus, PtERV1, which infected nonhuman primates 4 million years ago. They found that humans have innate immunity to this virus, but this resistance may have made them more susceptible to HIV infection.
Researchers discovered previously unknown exons outside annotated genes in human proteins, suggesting complex gene regulation and increasing the risk of disease-causing mutations. This finding has significant implications for medicine, requiring extra caution when studying genetic phenotypes.
A comprehensive analysis of the human genome has shown that a significant portion of the genome is actively transcribed and copied into RNA, relaying information to cellular machinery. The study identified new regions of gene regulation and altered our understanding of how genes are controlled.
The ENCODE project has mapped functional elements in the human genome, revealing widespread transcription and novel promoters. The study also highlights regions of evolutionary constraint, which may be linked to disease.
The ENCODE consortium, led by the University of Washington, has completed a multi-year research effort to boost understanding of how the human genome functions. The study focuses on non-gene sequences, revealing regulatory elements that control gene expression and DNA packaging.
A UVa-led team has discovered that chromatin packing plays a crucial role in determining gene expression timing. By analyzing the replication of genes in different cell lines, researchers found that loosely packed chromatin allows for early gene expression, while densely packed chromatin leads to late expression.
The ENCODE project reveals that most human DNA is transcribed into RNA and that transcripts extensively overlap one another. This challenges the long-standing view of a small set of discrete genes and 'junk' DNA, suggesting instead that genes are just one type of functional DNA sequence.
The ENCODE project reveals that most DNA in the human genome is transcribed into functional molecules and that genes are just one part of a complex interwoven network. This challenges the long-standing view that the human genome consists of a small set of discrete genes with vast amounts of non-biologically active 'junk' DNA.
Scientists developed a new mouse model that closely mimics human cancers, enabling researchers to identify cancer-causing genes and improve laboratory drug testing. The model's genetic instability was found to be similar to that in human tumors, suggesting its potential for guiding gene discovery.
The Clostridium botulinum genome, the source of the world's deadliest toxin, is remarkably stable and shows limited genetic variation. The organism uses a single-minded opportunistic approach to survive, relying on its ability to form dormant spores and attack animal hosts with its potent toxin.
Researchers at Berkeley Lab are part of a $57 million NIH grant project to identify functional elements in the genomes of fruit flies and roundworms. The project aims to shed light on human genome function, with findings potentially aiding cancer research and gene expression control.
The modENCODE project will analyze the genomes of Drosophila melanogaster and Caenorhabditis elegans to identify functional elements, such as regulatory sequences and non-coding genes. These findings will aid in understanding human biology and medicine by providing insights into the conservation of genetic mechanisms across species.
The first marsupial genome sequence has been published, providing new insights into human evolution and the origins of the human genome. The study found that most genetic innovations leading to the human genome sequence lie in areas referred to as 'junk' DNA, highlighting the importance of non-gene regions in shaping mammalian genomes.
A major new effort uncovers medium- and large-scale genetic differences between humans, including structural variations in DNA sequences that amount to 5-10% of the genome. These changes can influence disease susceptibility and normal functioning.
A recent study identified a gene mutation that contributes to human cognition, which is exclusive to humans. The mutation affects the splicing pattern of the neuropsin gene, creating a longer protein involved in learning and memory.
Researchers at UCLA have created a system to translate protein sequences into musical notes, with a 20-note range spanning over 2 octaves. The music is designed to be melodic and less 'jumpy,' making it more accessible to those who are visually impaired.
A genome-wide search has uncovered three novel regions of human DNA that contain clear genetic risk factors for type 2 diabetes, as well as a genomic region associated with elevated blood triglycerides. The study reveals surprising new avenues for disease research, treatment and prevention.
Researchers analyzed the macaque genome to identify genes that have evolved in humans compared to other primates, finding significant changes in hair and immune system genes. The study also identified genetic variations on the X chromosome, providing insights into human evolution and disease gene identification.
The study provides a comprehensive understanding of the rhesus macaque genome, shedding light on the evolutionary relationship between humans and chimps. The findings also reveal the significance of mobile elements in shaping genomes and their impact on diseases such as HIV/AIDS.
The rhesus macaque genome sequence comparison with the chimpanzee and human genomes revealed significant genetic differences, including genes involved in hair formation, immune response, and membrane proteins. The study also identified nearly 200 key player genes that may contribute to differences among primate species.
The draft sequence of the rhesus macaque genome will enable researchers to study disease progression at the genetic level, providing insights into human health and evolution. The findings also reveal unique aspects of the macaque's immune system response and genome organization.
A recent study analyzed the elephant shark genome, revealing ancient genes lost during human and teleost fish lineages. The findings suggest that elephant sharks are a valuable model organism for studying vertebrate genome evolution.
A new gene, kalirin, has been discovered that may contribute to the development of cardiovascular disease. The research suggests a biological mechanism never before linked to the disease and could lead to novel ways to treat or prevent it.
A new triplex assay developed by Ingeneus Research enables direct detection of base sequences in human genomic DNA, eliminating the need for PCR. The assay uses YOYO-1 to de-condense duplex targets, allowing specific oligo probes to bind and detect sequence variations.
A new mathematical model developed by USC College computational biologist Peter Calabrese simulates the evolution of genetic recombination hotspots in the human genome. The model reveals that hotspots are not as fixed as previously thought, but rather vary across populations and can be found in multiple ethnic groups.
The study reveals that driver mutations are fewer than previously thought, but still outnumber passenger mutations. The researchers identified possible driver mutations in 120 genes, most of which had not been seen before.
A study published in PNAS reveals that genes of human and chimpanzee underwent a rigorous two-step filtering process, with radical mutations more harshly screened. The researchers estimated that around 10-12% of genetic changes between humans and chimpanzees are adaptive, with most responsible for significant evolutionary divergence.
Researchers have identified a new protein super-family called DANGER, which plays a crucial role in cell growth and differentiation. The discovery has significant implications for understanding animal evolution and development, as well as potential treatments for diseases such as Smith-Magenis syndrome and chronic myeleoid leukemia.
A global survey of genetic variation shows that at least 10-20% of heritable variation in gene activity is due to copy number variations (CNVs), affecting the activity of over 1,000 genes. The study provides a first genome-wide view of how unique genetic variations lead to unique patterns of gene activity.
Researchers have developed a novel method to identify and predict promoter and enhancer regions that switch on transcription, enabling large-scale functional annotation of 'enhancers'. The study uses the 'histone code' to distinguish between promoters and enhancer regions.
Scientists at Arizona State University are working on a new DNA sequencing project that combines physics, chemistry, and nanotechnology to dramatically lower the cost of genome sequencing. The goal is to make genome sequencing a routine diagnostic tool in medical care for diagnosing and treating common diseases.
Researchers have identified numerous variations in gene copy number that may contribute to cancer risk and other complex diseases. The study used a new technique to analyze gene copy number in mouse strains, revealing potential implications for human health and illness.
The sea urchin genome shares significant similarities with the human genome, including genes associated with Parkinson's, Alzheimer's, and Huntington's diseases. The discovery could hold key insights into developing new treatments and therapies.
The DOE JGI has released version 2.0 of the Integrated Microbial Genomes (IMG) system, which features 1541 new public microbial, viral and eukaryotic genomes. Additionally, 177 in-house sequenced genomes have been added to the database, bringing the total number of genomes to 2301.
Scientists developed a comprehensive map of copy number variants (CNVs) in the human genome using advanced microarray technology and algorithmic tools. The study identified over 1,400 CNVs covering 12% of the genome, shedding light on genetic changes linked to diseases such as Alzheimer's and Parkinson's.