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 completed corn genome, published in Science, contains 32,000 genes and will aid in breeding high-yield crops. The sequence, a significant achievement after years of research, offers insights into plant genetics and opens new avenues for crop improvement.
A team of researchers completed the first draft of the cassava genome, which contains an estimated 95% of cassava genes. The availability of this sequence enables the development of a genome variation database to aid farmers in improving cassava resistance to CBSD.
The domestic horse genome sequence has been completed, providing access to specific gene sequences for identifying traits. The findings have significant implications for improved breeding practices and studying human health, particularly in relation to shared genetic conditions.
The study of the domestic horse's genome reveals remarkable similarities to humans, shedding light on key aspects of mammalian evolution. The analysis also provides a starting point for mapping disease genes in horses, potentially deepening knowledge of diseases in both species.
A $3.45 million project is studying how bacteria degrade RDX and determining its potential for bioremediation. Bacteria like Rhodococcus and Gordonia have evolved to thrive on the contaminants left behind by high-energy compounds.
Researchers at the Genome Institute of Singapore have made a significant breakthrough in understanding gene expression and regulation by developing a novel technology called ChIA-PET, which successfully mapped long-range chromatin interactions throughout the human genome.
The Genome 10K Project aims to sequence the DNA of approximately one species per genus of living mammals, birds, reptiles, amphibians, and fish. This will help reconstruct the genetic changes that gave rise to diverse life forms on Earth, with potential benefits for human and animal health, as well as conservation efforts.
The Institute of Molecular and Cell Biology in Singapore joins an international effort to sequence the genomes of 10,000 species, enabling comparisons between animal and human genomes. This will help scientists understand evolutionary changes and predict responses to climate change, pollution, and disease.
Researchers found a mechanism that enables proteins to become more specialized over time, contributing to human biological complexity. Random genetic mutations in duplicate genes can lead to dosage imbalances, which can be alleviated through paralogization, allowing humans to maintain complex tissues.
Researchers at Johns Hopkins Medicine have identified over 300 proteins that control genes, a newly discovered function for previously known proteins. These 'moonlighting' molecules may play a key role in human complexity, with potential implications for understanding gene regulation and cellular behavior.
Researchers aim to understand the 'language' of the human genome by linking proteins to their genomic blueprints. The goal is to enhance efforts to solve pressing health issues like heart disease and cancer.
The human genome is organized into two separate compartments, with active genes separated from inactive DNA. The fractal globule architecture enables cells to pack DNA densely while avoiding knots, allowing for efficient gene expression and replication.
Researchers create the largest map of human genome changes, identifying 75 regions that 'jump' between genomes and over 250 genes with duplicated copies. The study provides insights into evolutionary biology and offers a resource for researchers to explore genetic variation's role in human disease.
The University of Washington has received $25 million to launch the Northwest Genomics Center, a new large-scale genomics center focused on medical sequencing. The center will explore genetic connections to heart, lung, and blood diseases, with a goal of understanding disease susceptibility and resistance.
The University of North Carolina has been awarded a $13-20 million Cancer Genome Atlas Grant to better understand the mechanisms responsible for uncontrolled growth of cancer cells. The project aims to develop a comprehensive catalog of genetic and genomic changes in cancers, which could fuel rapid advances in cancer research.
The NIH has awarded $45 million to four new Centers of Excellence in Genomic Science, including two new centers and two existing ones. The new centers will focus on psychiatric disorders and gene regulation, while the existing centers will continue to advance genomic research. Researchers at the University of North Carolina, University...
Researchers at the University of Edinburgh have identified a protein that enables sections of so-called junk DNA to be cut and pasted within genetic code. This finding could speed up the development of gene therapies by allowing scientists to control the process of DNA transposition.
Two studies by Dartmouth researchers analyzed how personal genetic testing companies use genome data to judge customer health, finding the knowledge base is still in its infancy. The authors also used genetic data to reveal ancestry information, discovering six subgroups of people with distinct genetic backgrounds.
Researchers engineered a human HIV-1 inhibitor modeled after AoT5Cyp, a potent owl monkey fusion protein. The human fusion protein, hT5Cyp, blocked HIV-1 infection in human macrophage and T cell lines without disrupting normal cell function.
Researchers found novel human genes that originated from non-coding DNA in flies, yeast, and primates, with approximately 18 human-specific genes estimated to have arisen during human evolution. These genes are unlike any other human genes and may play a crucial role in human-specific traits.
A special issue of Genome Research explores personal genomics, revealing novel biological insights gained from individual genomes. The study found significant genomic variation between closely related ethnic groups and the role of mobile elements in creating structural variation.
A newly designed computational method has enabled accurate counting of duplicated genome sequences, revealing key findings on gene copy-number variation and its association with diseases. The study's results have significant implications for understanding human genetic variation and its impact on health.
A Rutgers University—Camden biochemist is creating a database for quick background checks on all known enzyme functions, including energy-creators like ATP and ADP. The goal is to create a standard vocabulary to describe how enzymes function for the biomedical community.
Researchers developed a novel genome-analysis strategy to rapidly discover possible gene-disease links, enabling the search for disease-causing genes in unrelated individuals with the same condition. The approach uses targeted analysis and newer technology to identify candidate genes for Mendelian disorders, offering a promising soluti...
Researchers sequenced exomes of 12 people to detect rare genetic variants causing diseases. The study found that sequencing exomes can be used to uncover genes contributing to common conditions like diabetes and cancer, enabling personalized medicine.
Scientists at Brown University have completed a study mapping variations in epigenomic structure using over 200 human tissue samples. The research reveals wide epigenetic variation linked to aging and smoking, which may increase susceptibility to diseases like cancer.
Researchers at the Salk Institute found that human brain cells harbor astonishing genomic variability due to mobile DNA elements. This phenomenon may drive evolution and create neural diversity, making each person unique.
A new resource for studying human illnesses has been unveiled, featuring a high-resolution map of copy number variations (CNVs) in the human genome. The study provides a deep and broad set of CNVs, along with a research tool for diagnosing genetic problems, which will help identify rare diseases resulting from CNVs.
Raxibacumab, a human monoclonal antibody drug, shows high efficacy in treating inhalation anthrax with a single dose. The treatment targets anthrax toxins after they are released by the bacteria into the blood and tissues.
Janet Davison Rowley's work established cancer as a genetic disease through discoveries of recurrent chromosomal abnormalities in leukemias and lymphomas. Her findings revolutionized how cancer is understood and treated, leading to more precise diagnoses and effective treatments.
Researchers created a genetic linkage map for S. mansoni, a blood fluke infecting 90 million people in Africa and the New World. The map will facilitate high-resolution population genetic studies and improve understanding of transmission patterns.
Researchers discovered that variation in the same gene affects disease resistance in both humans and baboons, with 60% of Amboseli baboons infected with a malaria-like parasite. The findings provide new insights into the genetic basis of differences in vulnerability to infection.
A new paper reveals that there are more genetic differences between humans and mice than previously thought. One-fifth of mouse genes are new copies that have emerged in the last 90 million years of mouse evolution.
Researchers used sophisticated statistical analyses to study genomic patterns of human population structure, revealing 18 significant axes of variation. These findings provide insights into the history of human evolution, evolutionary forces shaping local populations, and geographic correlations with genetic variation.
The special issue of Genome Research celebrates Charles Darwin's birthday and the publication of On the Origin of Species. Researchers investigate human adaptation and evolution on a genome-wide scale, describing novel fine-scale genetic structure within and between populations worldwide.
Scientists have discovered that the bovine genome contains over 2,800 billion DNA building blocks and around 22,000 genes. The study found that cows share about 80% of their genes with humans, providing valuable insights into human biology.
Researchers have sequenced and analyzed the domestic cattle genome, identifying approximately 22,000 genes and sharing about 80% with humans. The findings provide critical insights into the structure and function of the human genome, including segmental duplications that affect immunity and metabolism.
Researchers are decoding the network of biological complexes that regulate development, focusing on key proteins involved in gene expression. The study aims to understand how these proteins cooperate to perform functions in healthy cells and compare this with disease states, particularly cancer.
The DECIPHER database has revealed its developing role in revolutionizing both clinical practice and genetic research, providing a key to unlock the causes of illnesses. The data from around 100 centres has been shared openly worldwide, benefiting researchers, clinicians, and patients.
A major study funded by the Bill & Melinda Gates Foundation investigates whether gut microbes contribute to severe malnutrition in infants. Researchers at WashU Medicine will compare intestinal microbes of severely malnourished twins with healthy twins, exploring their role in malnutrition's complex interplay with diet and human genome.
Researchers have sequenced the genome of the human body louse, revealing a fragmented mitochondrial genome consisting of 18 minichromosomes. This discovery challenges our understanding of animal DNA structure and raises questions about its evolution and potential benefits.
Researchers mapped copy number variations (CNVs) in African-American and white genomes, finding two duplications with differing frequencies between the groups. The study provides insights into CNV's role in disease and potential neurological disorders.
Scientists have identified 10 genetic variants linked to an elevated risk of arrhythmias and sudden cardiac death (SCD). These variants influence heart repolarization and raise or lower the risk of cardiac arrhythmias, with a prolonged QT interval increasing the risk up to five-fold.
Researchers developed a topographical approach to explore DNA's three-dimensional structure to uncover functional non-coding regions in the human genome. The study found that 12% of the human genome is constrained by evolution, correlating with functional non-coding elements better than sequence analysis alone.
Researchers have devised a novel method to identify functional elements in non-coding DNA by surveying the landscape of DNA structure. This topographical approach reveals that about 12% of non-coding DNA appears functionally important, twice as much as detected using sequence comparison.
African populations are still evolving due to natural selection, with lactose tolerance and genetic variation influenced by diseases like malaria. Penn genetics researcher Sarah Tishkoff presents her findings on human evolutionary history in Africa.
Researchers at the University of California, Santa Cruz, have found evidence that mobile repetitive elements, or 'jumping genes,' significantly impact the evolution of gene regulatory networks. At least five percent of the human genome has been under negative selection during most of mammalian evolution, indicating functional importance.
Scientists have developed a new molecular tool that pinpoint 'on-off switches' in genomes using next-gen sequencing technology. The research promises to clarify the role of vast stretches of non-coding DNA sequence, revealing powerful regulatory influence.
Researchers at ASU have discovered that humans have a unique genetic adaptation to starch consumption, with high-starch diets associated with more copies of the AMY1 gene. This finding provides insight into why certain populations may be better equipped to handle diarrheal diseases.
Gene duplication in our ancestral species may be responsible for uniquely human characteristics, and also contribute to diseases like autism and schizophrenia. Research estimates that these duplications slowed down after humans diverged from chimpanzees.
A study mapping epigenetic marks in three oncogenic viruses found that viral genomes become progressively methylated in patients who developed cancer. This modification may help viruses evade the immune system and is a promising target for new prevention, diagnosis, and treatment methods.
Complete Genomics successfully sequenced a Caucasian HapMap sample, generating 91x average read coverage of the genome in a matter of days. The company's system delivered unprecedented throughput, producing 254 Gigabases (Gb) of mapped data, and demonstrated an average run rate of over 70 billion mapped bases per run.
A study by the Wellcome Trust Sanger Institute suggests that around 1 in 200 human genes may be unnecessary for human health. The researchers found that single-letter changes in genetic code can disrupt proteins, leading to variations that are either beneficial or have little consequence.
A new study reveals that large structural DNA changes, known as copy number variants, may be responsible for schizophrenia. Researchers found eight deletions in patients' genomes, two of which were newly identified, suggesting that these rare variations could be causative.
Researchers have developed a new method for comparing whole genome sequences, revealing new genetic relationships and surprising discoveries. This technique can compare entire genomes, not just selected genes, and has classified previously enigmatic bacteria and viruses.
The new journal Genomic Medicine bridges the gap between research and clinical practice, providing open access to high-quality research articles. The journal features columns by leading experts on genomic medicine and its applications.
Scientists have found a genetic variant within the LCE gene cluster that provides protection against psoriasis. This discovery suggests compromised skin barrier function plays a role in the disease's development.
Researchers at Stanford University have found evidence that adaptation is a major driver of human genomic evolution. The study, published online in Public Library of Science Genetics, reveals that genetic mutations beneficial to an organism's environment are more common than previously thought. This suggests that humans have undergone ...
The launch of BioMed Central's Genome Medicine journal marks a significant milestone in the field of personalized medicine. The journal will focus on the latest technologies and findings impacting human health and disease, covering topics such as genomics, epigenetics, and computational approaches to disease management.
Researchers compared many human and chimpanzee genomes to identify duplicated or lost regions during evolution, finding similar patterns in copy number variation but key gene differences. CNVs affected genes involved in inflammation and cell proliferation, with one gene linked to HIV susceptibility found to have reduced numbers in chimps.