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.
Researchers at GIS and MPIMG discovered a molecular network in human embryonic stem cells that activates the ERK pathway, causing cells to respond by activating genetic information. The network also silences genetic information through ELK1, maintaining the cell's undifferentiated state.
Researchers sequenced the genome of a 700,000-year-old horse fossil, revealing that all modern horses originated around 4.0-4.5 million years ago. The study also found evidence of demographic fluctuations in horse populations over the past two million years.
A team led by UC Riverside's Karine Le Roch will study the 3-D structure of the malaria parasite's genome during its erythrocytic cycle, which could lead to insights into how parasite genes are regulated. This information is crucial for designing new drugs and novel lines of defense against malaria.
Researchers found that bacterial DNA is more likely to integrate into the human genome in tumor samples than in normal cells. The phenomenon of lateral gene transfer may play a role in cancer and other diseases linked with DNA damage.
Researchers found that bacterial DNA is more likely to integrate into the human genome in tumor samples than in normal healthy somatic cells. The study suggests that lateral gene transfer may play a role in cancer and other diseases associated with DNA damage.
Researchers reconstructed medieval leprosy genomes from centuries-old human remains, finding no change in the pathogen's genome despite a significant drop in cases. The study suggests humans may have developed resistance to the disease, which spread through natural selection and social isolation.
A new mathematical method simplifies cancer-cell genome data, identifying recurrent events and revealing tumor evolution. The CORE technique improves prognosis and treatment decision-making by distinguishing subpopulations of cancer cells.
A team led by Peijun Zhang has described the 4-million-atom structure of HIV's capsid protein shell, revealing critical molecular interactions that could lead to new treatments. The findings may enable the development of drugs that disrupt the shell's assembly or disassembly, potentially stopping the virus from replicating.
Researchers have decoded the genome of Tibetan antelopes, revealing genetic factors associated with high-altitude adaptation. The study found that gene categories involved in energy metabolism play a crucial role in the species' survival at extreme elevations.
Researchers at Worcester Polytechnic Institute have sequenced the genetic code of Panagrellus redivivus, a tiny nematode also known as the beer-mat worm. The study reveals nearly 24,000 putative genes and sheds light on animal biology, including differences between male and female organisms and unique adaptations of parasitic worms.
Researchers from Saint Louis University and the University of Toronto have decoded the western painted turtle's genome, revealing genes that may be key to managing human health disorders such as stroke and heart attack. The study also identified genes that could lead to the development of safer anesthetics for human patients.
Researchers discovered that a person's antibody genes, operation, and potential fight-off targets vary from person to person. This study found ethnicity influences immunity, potentially impacting disease risk and treatment responses.
Researchers have generated mutations in almost 40% of zebrafish genes, creating a resource for understanding physical and biochemical consequences of genetic variation. The study aims to reveal the function of each gene in zebrafish to shed light on human disease.
The completed zebrafish genome reveals 70% of human protein-coding genes have zebrafish counterparts, highlighting the model organism's potential for human disease research. The study also identifies unique features, such as high repeat content and chromosomal regions influencing sex determination.
Researchers found genes in turtles that become more active in low-oxygen conditions, including one 130 times more active than in humans, which may improve oxygen-deprivation treatment. Turtles' long lifespan may come from silencing 'life-shortening' genes, similar to those present in humans.
The study reveals that turtles activate existing genes in new ways to adapt to oxygen deprivation, which may lead to improved treatments for human heart conditions. The research also highlights the importance of preserving turtle diversity due to their slow evolution rate and declining global populations.
The western painted turtle genome shows a slow evolution rate compared to humans and pythons, with 19 brain genes and 23 heart genes expressed in low oxygen conditions. The study reveals potential insights into human health disorders related to anoxia and hypothermia.
A team of biologists has identified the mating-type genes responsible for determining the sex of cells in the single-celled organism Tetrahymena thermophila. This discovery sheds light on a unique process of DNA rearrangements that leads to randomly determined progeny sex.
A recent study reveals that 41% of the human genome is covered by longer DNA patents, which could lead to a loss of individual genomic liberty. The study also found that short sequences from patents cover virtually the entire genome, even outside of genes.
Researchers have discovered seven new genetic loci associated with increased risk of age-related macular degeneration (AMD), a condition that affects central vision and can lead to blindness. The study, supported by the National Eye Institute, represents the most comprehensive genome-wide analysis of AMD genetics.
A team of international researchers has created an instruction manual for the human genome, providing a framework to understand the relationship between genetic makeup and lifestyle. The model explains how individual biological parts operate differently within each person, paving the way for tailored treatments in personalized medicine.
The study identified seven new loci near genes that are associated with increased risk of age-related macular degeneration. The analysis included data from over 17,000 people with advanced AMD and 60,000 without, revealing a variety of biological functions implicated in the disease.
Researchers have found six regions of the genome where humans and chimpanzees share identical genetic variants, suggesting that these traits date back to a common ancestor. This study highlights the importance of balancing selection in maintaining genetic variation and fending off infectious disease.
Researchers discovered a molecular machine called SCANR that recognizes and targets transposons in cells, potentially halting the spread of genetic elements. This finding builds upon previous discoveries of jumping genes and RNA interference, suggesting a novel way for cells to distinguish between 'self' and 'non-self' genes.
Studies show that mouse models do not reflect the human genomic response to inflammatory injury, including major burns and trauma. Despite similar responses among humans, mouse models exhibit limited correlation with gene expression changes.
The Chinese tree shrew genome sequencing provides new insights into facilitating biomedical researches, particularly in studying hepatitis C virus and depression. The study reveals that tree shrews have a higher brain to body mass ratio than humans and share genetic features with primates.
A recent study published in Genome Medicine found great diversity in biobanks, with varying organizational structures, specimen types, and purposes. The research emphasizes the need for standardized policies to govern these collections and make samples available for research.
The Chromosome-Centric Human Proteome Project (C-HPP) is a 10-year effort to map and describe human proteins. The project aims to provide a full catalogue of proteins with practical applications in novel drug targets, diagnostic biomarkers, and understanding cellular regulators.
A study by UMass Chan Medical School scientists has discovered that the retrovirus HERV-H is extremely active in human embryonic stem cells, making up to 2% of total RNA. This finding may aid in the development of induced pluripotent stem cell technology and transform current stem cell therapies.
Researchers at Karolinska Institutet have identified the DNA sequences that bind to over 400 proteins controlling gene expression, representing half of all human transcription factors. This discovery provides a valuable resource for furthering our understanding of the human genome and its role in disease development.
Researchers found a human gene associated with the presence of Prevotella bacteria in the gut, which could have implications for treating diseases like Crohn's. The study suggests that genetic variations may influence the makeup of the gut microbiota.
Researchers have identified four new regions on the human genome linked to Behcet's disease, which is characterized by inflammation of blood vessels and potential blindness. The study provides insights into genetic factors contributing to the disease and suggests new therapies for treatment.
A study found that autism genes are more prone to mutation hotspots, contributing to disease risk. The researchers used whole-genome sequencing on monozygotic twins with autism and their parents, identifying clusters of nucleotide substitutions in specific parts of the genome.
A recent study published in Cell reveals that genetic mutations in 'hotspots' are more frequent in genes linked to autism and other disorders, providing new insights into their causes. Researchers found that these regions exhibit higher mutation rates, potentially leading to disruptions in gene function.
Scientists tracked the origins of HIV and discovered potential genetic resistance in West African human populations. The study found overlaps between selection signatures and protective genes against HIV-1, which may have evolved to counteract the virus.
Researchers have created two new databases, APPRIS and ChiTaRS, to study the human genome and its variants. The databases contain thousands of genomic variants associated with specific diseases, providing a powerful tool for analyzing mutations in protein variants related to illness.
Susan Celniker, a leading expert in genomic analysis of Drosophila, and Wim Leemans, a world leader in laser plasma acceleration, have been named AAAS Fellows for their outstanding contributions to science. They were recognized by their peers for their pioneering work in genomics, genetics, and laser-plasma particle beam research.
Researchers have identified over 700 novel proteins in the herpesvirus genome, many of which are surprisingly small and complex. This discovery provides new insights into the biology of the herpesvirus and highlights the importance of analyzing the products actually produced from the genome.
Researchers identified hundreds of regions in the human genome with unique chromatin structures that control cognitive behavior and expression. These findings provide new insights into diseases like Alzheimer's and autism.
Researchers have identified hundreds of small regions of the genome uniquely regulated in human neurons, distinguishing us from other primates. These regulatory differences may hold the key to understanding human intellectual prowess and susceptibility to 'human-specific' diseases such as autism and Alzheimer's.
The study found significant genetic differences between Asian and European wild boars, as well as a high degree of similarity in immunity genes between pigs and humans. This discovery could lead to better breeding strategies, improved pork production, and increased potential for the pig as a biomedical model.
The Wuzhishan Pig's whole-genome sequence reveals a wealth of genetic tools for studying complex diseases common to humans. The pig's genome contains a large number of similar drug target genes, making it an excellent model for therapeutic drug testing.
Researchers sequenced 1092 human genomes from 14 populations to discover more numerous and rarer genetic variations than previously known. This expanded genetic information enables the discovery of rare genetic variants important for understanding population history and disease association studies.
Researchers have compiled the largest human genetic variation catalog, involving over 1,000 individuals from 14 ethnic groups. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.
The 1000 Genomes Project has sequenced 1,092 human genomes, providing a genetic guidebook to help researchers interpret genetic changes in people with disease. The study found that rare gene variants are restricted to specific geographic regions and can be used to identify individuals at risk of certain conditions.
The project profiles rare and common genetic variations in 1,092 individuals from 14 populations, capturing up to 98% of sequences for rare gene variants occurring in at least 1% of the population.
The 1000 Genomes Project has mapped normal human genetic variation at different scales, revealing differences between individuals and populations. The results open new approaches for research on the genetic causes of diseases, including links to specific DNA sequences and their inherited variants.
The 1000 Genomes Project Consortium has successfully constructed an integrated map of genetic variation from 1,092 human genomes, capturing up to 98% of variants at 1% frequency. BGI contributed sequencing and bioinformatics expertise to the project, providing powerful approaches for researchers to conduct disease studies.
A recent genomics study reveals that comparing diseased patients' genomes with those of people from similar ancestries can dramatically simplify searches for harmful mutations, potentially leading to more effective treatments. The study's tool, the Scripps Genome Adviser, uses a reference panel of less than 20 genomes to identify ances...
A large-scale analysis of Y chromosomes found two spontaneously recurring deletions responsible for approximately 8% of failed sperm production. The deletion known as b2/b4 increases the risk of severe spermatogenic failure and is associated with roughly 6% of cases.
Researchers have discovered that genes 'burst' on and off at precise frequencies, regulating protein synthesis. This finding has implications for understanding cancer, drug resistance, and other diseases.
Researchers identify 60,000 T2D-associated metagenomic markers in Chinese patients and develop a new classification system using metagenomic linkage groups. Healthy individuals have higher butyrate-producing bacteria, while T2D patients show an increase in opportunistic pathogens.
Researchers developed EvoD to sift meaningful variants from thousands of mutations in personal genomes, improving diagnostic accuracy. The technique capitalizes on comparative genomics and exome analysis, showing promise for detecting functionally damaging gene variants associated with Mendelian diseases.
The largest genomic study ever conducted among Khoe and San groups reveals that these groups from southern Africa are descendants of the earliest diversification event in human history. The research found evidence of local adaptation in different Khoe and San groups, as well as surprising stratification among the groups.
Researchers discovered a gene called Taqpep that helps establish periodic patterns like stripes or spots in felines. Variations in the Edn3 gene are responsible for dark hair color, suggesting a link between genetic mechanisms and animal coat patterns.
Researchers identified two genomic locations associated with a large number and variety of diseases, including cancer and autoimmune disorders. The MHC locus was linked to autoimmune diseases, while the INK4/ARF locus was connected to aging-related diseases such as atherosclerosis and Type II diabetes.
The National Human Genome Research Institute (NHGRI) has awarded $19 million in grants to harness nanoscale technologies to dramatically reduce the cost of DNA sequencing. The goal is to address challenges such as speed, accuracy, and price, enabling widespread use of genomics in research and clinical care.
The GENCODE Consortium discovered a staggering array of genes in the human genome, including over 10,000 novel genes and 20,687 protein-coding genes. Long non-coding RNAs, a relatively new type of gene, were also found to play a significant role in human biology and disease.
The CNIO group is part of the Gencode project, creating a reference geneset from Encode data. This effort has mapped four million 'switches' controlling human cell and tissue gene activity, revealing a complex web of interactions.
The ENCODE project has published a series of articles annotating the functional elements in the human genome, revealing new information on pseudogenes and regulatory elements. The study's findings are now freely available online as part of BioMed Central's open access policy.