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.
The Genetics/Genomics Competency Center (G2C2) has expanded its genomic resources for healthcare professionals. The website offers over 500 materials on genetics and genomics concepts for use in the classroom and clinic, including new resources on genomic technologies and genetic testing.
Scientists discovered that humans are able to keep accumulating damaging mutations in check due to the synergistic interactions between different parts of the human genome. This study provides evidence for natural selection against highly damaging genetic mutations and sheds light on the evolutionary maintenance of sexual reproduction.
Researchers found a region on chromosome 19 that represses Xist, allowing for the activation of multiple X chromosomes in female embryos. This discovery may explain the worldwide human sex ratio, which has slightly favored males over females.
Researchers at Rockefeller University discovered that our primate ancestors evolved a defense mechanism against an ancient virus by manipulating its gene function, leading to its extinction. This study provides valuable insights into the genetic material used by animals to combat viruses, sometimes resulting in viral extinction.
Scientists uncovered a genetic fossil record of extinct retroviruses in modern organisms, revealing how our ancestors eradicated an ancient retrovirus around 11 million years ago. The study analyzed human endogenous retrovirus T (HERV-T) fossils to understand the elimination process.
Researchers have developed a method to swiftly screen the non-coding DNA of the human genome for links to diseases driven by gene regulation. The technique uses CRISPR/Cas9 to precisely cut and paste DNA sequences, enabling the identification of regulatory elements controlling disease genes.
JAX Professor Yijun Ruan has received a $1.05 million grant from the Human Frontier Science Program to explore the fundamental mechanics of memory and learning, as well as epilepsy. The research team will investigate how genome topology contributes to changes in gene expression that underlie these conditions.
A study published in Nature Genetics reveals that large regions of the human genome have built-in variability in reversible epigenetic modifications, which enables cancer cells to proliferate and adapt. This variation can make cancer cells more resistant to chemotherapy and treatment.
A team of researchers has developed a new method, called 3D genome assembly, that can create a human reference genome from scratch for less than $10,000. This technology allows scientists to assemble the genome of Zika virus-carrying mosquitoes at a fraction of the cost and time required by traditional methods.
A team developed a new way to sequence genomes, assembling the Zika virus mosquito genome for less than $10,000. This allows for rapid creation of reference genomes for all species, including humans, tumors, and patients, enabling better diagnosis and treatment.
Researchers developed a modified Hi-C technique to identify incorrect scaffold positions and anchor sequences, achieving 99% genome assembly accuracy for human genomes. The technique was applied to assemble the genomes of two mosquito species, revealing shared ancestry that could aid in controlling disease-carrying vectors.
Michigan State University is using a $727,000 grant from the National Institutes of Health to study the connection between fish genes and human medicine. The team, led by Ingo Braasch, is focusing on the spotted gar, a fish with a similar genome to humans and zebrafish.
Researchers have identified a specific genomic variant linked to obesity in West Africans and African-Americans, highlighting the importance of genomics research in diverse populations. The variant, found in approximately 1% of individuals, increases their risk of obesity by about six pounds.
A global research team, led by NYU Langone's Jef Boeke, has built five new synthetic yeast chromosomes, replacing 30% of the organism's genetic material. The breakthrough enables the creation of designer genomes to address unmet needs in medicine and industry.
A family of ~350 human proteins has been found to establish complex interplay with transposable elements, creating largely human-specific gene regulatory networks. These networks influence all of human biology, both in health and disease, and are likely to have profound implications for understanding human development and physiology.
A team of researchers at Columbia University has developed an algorithm that unlocks DNA's full storage potential, storing up to 215 petabytes of data in a single gram. They demonstrate the reliability and efficiency of their DNA Fountain technique, which packs more information into DNA molecules than previously published methods.
A comprehensive atlas of human long non-coding RNAs shows that nearly 2,000 have potential involvement in diseases and genetic traits. The research suggests that many long non-coding RNAs are generated from enhancer elements, deepening the understanding of their origins.
Researchers analyzed over 60,000 individuals and found five with extreme numbers of genetic changes that couldn't be explained by random events. These copy number variants were predominantly gains in genes and present in all cells, suggesting they occurred early in embryonic development.
A new genomic technique has been devised to quickly and accurately detect imprinted genes expressed in each cell type, improving diagnosis of genetic diseases like Prader-Willi and Angelman syndrome. Researchers have identified novel imprinted genes and demonstrated their tissue-specific expression.
A 258-page report outlines principles and guidelines for human genome editing, emphasizing caution on germline editing and enhancement. The report also explores clinical applications, risks, and benefits of the technology.
A team at Salk Institute developed REPTILE algorithm to predict regulatory elements in noncoding regions of the genome. The method combines histone modification and methylation data for more accurate predictions, paving the way for targeted searches for disease-causing genetic variants.
A team of researchers at Johns Hopkins Medicine has identified a crucial enzyme, RAG-2, that enables precise DNA rearrangement during white blood cell development. This process is essential for producing novel antibodies that recognize and combat viruses and bacteria.
Eleven UNIST students were recognized for their academic and research work at the 23rd Annual International Samsung Human-Tech Paper Awards. The prestigious prize is awarded to an elite cadre of creative young researchers who demonstrate exceptional research skills.
A new study found that most vertebrate genomes exhibit dynamic behavior, with some species losing and gaining DNA over time. This study provides the first comprehensive comparison of warm-blooded vertebrates, revealing surprising similarities between birds and mammals.
The National Human Genome Research Institute awards JAX a four-year $6.7 million grant to launch a center for three-dimensional genome mapping of the human and mouse genomes as part of the ENCODE initiative.
The Lawrence Berkeley National Laboratory will establish a Center for In Vivo Characterization of ENCODE Elements (CIViC) to explore the functional impact of genomic elements on organismal biology and health. Researchers will use CRISPR/Cas9 gene-editing technology to systematically test the function of representative sequences in mice.
The new ENCODE centers will use cutting-edge technology to define the functions and gene targets of regulatory sequences, which play a major role in diseases such as cancer, heart disease, and autism. Scientists aim to identify crucial regulatory elements that control gene expression and cell behavior.
A new study from Vanderbilt University uses game theory to simulate re-identification risks and strikes an optimal balance between data sharing and privacy. The approach compares various data sharing policies in terms of risk and scientific utility, providing a more realistic estimate of the risk.
A study by Lund University researchers reveals that retroviruses in the human genome can affect gene expression, potentially contributing to brain development and neurological diseases. The viruses, known as endogenous retroviruses, can act as docking platforms for proteins like TRIM28, influencing protein production.
A recent study found that genes controlling sugar content and acid metabolism played a key role in the domestication of jujube, a popular Asian fruit tree. The research reveals how humans selected plants with desirable traits to create the perfect balance of sweetness and acidity.
The study provides a detailed genome sequence of the gulf pipefish, which can be used as a reference for other labs to follow. The genome reveals genetic changes responsible for the evolution of unique features in the species, including its ability to gestate embryos.
Scientists have identified over a dozen genes linked to bone density and strength, using a novel approach that could speed up the development of new osteoporosis treatments. By mapping these genes onto existing genome-wide association study locations, researchers predicted 33 genes controlling bone mineral density.
A panel of experts discusses the potential risks and benefits of human genome editing for embryos, including cosmetic choices and long-term implications. They propose a balanced regulatory approach to oversee the technology.
The Cell Atlas is an open-access interactive database displaying high-resolution images of more than 12,000 proteins in cells. It provides spatial information on protein expression patterns at a fine subcellular level, revealing complex cellular architectures and single-cell variation.
Researchers have identified a novel microprotein called NoBody, which is involved in sweeping out unneeded genetic material inside cells. This discovery may signal the existence of additional microproteins involved in key biological mechanisms and diseases.
Researchers from BC Cancer Agency, UBC and SFU published key papers on epigenetic profiles and methodology for analyzing stem cells. The study aims to understand gene regulation in response to environmental signals and develop new ways to diagnose and treat diseases.
The Carl R. Woese Institute has received a $100,000 Grand Challenges Explorations Grant to study antimicrobial resistance in mobile microbiomes. The research aims to better understand how AMR genes spread in different environments and develop targeted measures to slow its transmission.
A new Illinois study makes detailed predictions about an intriguing mechanism of genomic evolution. The researchers modeled the interaction between Alu and L1 elements as a stochastic process, predicting oscillations similar to predator-prey interactions.
Recent studies identify 126 places in human genomes where archaic DNA sequences exist at high frequencies, including regions related to skin and immunity. This inheritance helped humans adapt to new environments as they dispersed throughout the world.
A study published in PLOS Genetics found that natural selection removed weakly deleterious Neanderthal gene variants from the human genome, as they were more effective in larger human populations. This loss of Neanderthal ancestry is attributed to historical differences in population sizes between humans and Neanderthals.
A new study reveals that Neanderthal genes are being removed from the human genome at a rate of weak but widespread selection. The researchers found that the small population of Neanderthals mixing with modern humans led to inbreeding, causing genetic variants to persist and then be weeded out by natural selection.
The Amur leopard genome sequence reveals that a meat-only diet leads to physiological, biochemical, and morphological adaptations. This finding has implications for the species' conservation status, as specialized diets result in low genetic diversity and small population sizes among cat family members.
The study found that 1% of chimpanzee genomes are derived from bonobos, indicating gene flow events between the species. This discovery has strong implications for chimpanzee conservation, enabling researchers to locate individual chimpanzees by their geographic origin.
Researchers created a three-dimensional map of chromosomes, revealing their complex 3D structure. The 'neighbor maps' method uses proximity pairs to infer chromosome organization and geometry.
Researchers discovered that genetic variations in ATAD3A are associated with rare neurological syndromes, including global developmental delay and visual, neurological, and heart problems. A study using Drosophila melanogaster revealed that mutations in the gene cause an aberrant phenotype in mitochondria.
A mathematical analysis has led to a formula describing the movement of DNA inside living human cells, enabling researchers to study the 3D architecture of the genome. The findings provide key insights into how genes are accessed by cellular machinery.
Researchers have developed statistical tools to pinpoint genomic regions that confer benefits to modern humans, such as the EPAS1 gene, which helps Tibetans adapt to high altitudes. The study suggests these interbred regions may have enabled archaic humans to survive in Eurasia and were passed on to present-day populations.
A study has identified over 1.9 million variants affecting multiple DNA 'letters', clarifying part of the human genome's unknown regions. These findings enable researchers to predict the occurrence of large structural changes and discover new genes, such as a previously unknown ZNF gene present in half of the Dutch population.
Researchers discovered that missing enhancers result in abnormal heart function, a finding that bolsters the significance of noncoding regions. A comprehensive genome-wide map of 80,000 human heart enhancers was also provided to facilitate interpretation of human genetic data sets.
Scientists at CNIO deconstructed alternative splicing as a source of protein production, finding it secondary to gene dominance. The study reveals that most human genes produce a single dominant protein, calling for rethinking biological innovation.
Eric Lander receives the award for his lifetime achievements in molecular diagnostics, transforming our understanding of rare and common genetic diseases. The AMP Award recognizes Dr. Lander's seminal publications, fundamental discoveries, and significant scientific contributions.
A new study reveals that variation in repetitive genetic code, once considered 'junk', can affect genome stability and lead to an increased risk of cancer, birth defects, and infertility. The research found that genomic variation at specific regions determines the location of centromeres on human chromosomes.
A team of Duke scientists used DNA-sequencing and computerized biology to study the glucocorticoid receptor's signaling system. They found that only 13% of binding sites directly respond to hormones, while the remaining 87% act as clusters that amplify signals.
Researchers sequenced exomes of 60,706 individuals from diverse populations to identify 7.4 million genetic variants, providing unprecedented resolution into low-frequency protein-coding variants. The analysis found only nine pathogenic variants with strong disease associations.
A researcher at Texas Tech University Health Sciences Center El Paso is on a mission to identify genes that enable HIV latentness. He plans to conduct genome-wide knockout screening to find specific genes that allow the virus to persist.
Researchers have developed Sequins, synthetic DNA sequences that reflect the human genome, allowing for improved analysis and diagnosis of genetic diseases. The technology provides internal standards to assess the accuracy of genomic data generated during sequencing.
Genomic research by UCLA scientists finds that the gray wolf is not a separate species from coyote but rather a hybrid of the two. The study suggests that the gray wolf should retain its endangered species status due to incorrect justification for removal.
Researchers developed a method to revert and maintain human ESCs in a naive state, closely resembling that of mouse ESCs. The team assembled a checklist of characteristics human ESCs must have to be considered naive, including gene expression, DNA methylation, and X chromosome inactivation.
A comprehensive study of the genetics of type 2 diabetes has unveiled significant details about the disease's underlying mechanisms. The research identified common genetic variants that contribute to an individual's risk of developing the disease, as well as genes and proteins directly involved in its development.
The Global Alliance for Genomics and Health presents a vision for a common framework of principles, protocols, and interoperable systems to enable responsible data sharing. The alliance has created tools such as the Genomics API and the Framework for Responsible Sharing of Genomic and Health Related Data.