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.
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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.
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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.
New research reveals that at least 10% of human genes have variations in the number of DNA copies, influencing gene activity and function. This discovery changes the way scientists think about genetic diseases and human evolution.
The National Human Genome Research Institute has awarded funding to three large-scale sequencing centers, which will focus on unlocking genomic secrets of human diseases. The centers will utilize existing technology to sequence important targets and pursue new technologies to increase speed and reduce costs.
The Genome Sequencing Center will use DNA sequencing to unlock cancer secrets and improve diagnosis. The four-year grant focuses on disease genes, particularly those involved in cancer.
A recent genetic study reveals that humans and Neanderthals shared a common ancestor around 706,000 years ago, but the two species diverged around 370,000 years ago. The study found no evidence of genetic admixture between Neanderthals and humans, contradicting previous theories.
The collaboration reveals that modern human and Neandertal DNA sequences diverged on average about 500,000 years ago. The sequencing team aims to reconstruct a draft of the 3 billion bases that made up the genome of Neandertals, shedding light on human biology.
Researchers created a detailed genetic map of the mouse genome using two groups of mice, tracking over 10,000 SNPs to identify patterns of inheritance. The study found variations in recombination rates across the genome, between sexes, and identified sequence motifs that may be representative of recombination hot spots.
Researchers have sequenced the sea urchin genome, revealing a powerful model system for studying embryonic development and immunity. The study's findings could lead to new insights into human skeletal formation and immune system function.
Researchers have reconstructed the DNA sequence of a 5-million-year-old retrovirus called Phoenix, which is able to produce infectious particles. The Phoenix retrovirus is an ancestor of a large family of mobile DNA elements that may play a role in cancer.
A Lehigh University scientist is working to achieve a resolution of a single DNA base using force spectroscopy and chemistry. The goal is to develop a low-cost tabletop setup for use in general biology or hospital laboratories.
Researchers aim to reduce genome sequencing cost to $1,000 using novel methods and computational tools. Meller's 'Opti-Pore' method uses electrons to decode DNA strands, while Weng focuses on bioinformatics to analyze data.
A new study published in PLoS Genetics has identified specific DNA regions that have accelerated their evolution in humans compared to chimpanzees. These 'Human Accelerated Regions' (HARs) are located near genes involved in growth and development, suggesting they may play important roles in human evolution.
A novel genome mapping method has been extended to humans, offering a faster and more cost-effective tool than traditional DNA sequencing. The algorithm makes it possible to optically map the human genome, revealing large-scale structure and detecting genomic abnormalities. This breakthrough may accelerate research in cancer biology.
NHGRI aims to lower genome sequencing costs to $100,000 and eventually $1,000 or less, enabling personalized medicine. New grants support innovative sequencing technologies with potential to revolutionize biomedical research and healthcare.
An international team analyzed human genetic variation within the major histocompatibility complex (MHC), a critical immune region. The study provides a detailed map of MHC genetic variability, laying the foundation for future research into the genetic roots of immune-related diseases.
Researchers at Mayo Clinic have discovered that HIV requires a specific human protein, LEDGF/p75, to integrate into the human genome. The study found that disrupting this connection could lead to new therapies for HIV or safer gene therapy methods.
A comprehensive scan of the human genome has identified 51 chromosomal regions linked to alcohol addiction. The study provides new tools for understanding the physiological foundation of addiction and identifying individuals at risk.
The National Human Genome Research Institute has awarded $54 million to three Centers of Excellence in Genomic Science over five years. These grants will support innovative research projects at the University of Washington, Yale University, and California Institute of Technology.
The Yale Center of Excellence in Genomic Science will receive a five-year, $18 million grant from the National Human Genome Research Institute. The team aims to refine technologies for analyzing gene regulation and exploring inflammation, with potential applications in understanding diseases like heart disease, arthritis, and allergies.
A study has found that a specific gene linked to brain development in humans differs dramatically from its counterpart in chimpanzees. The gene, called HAR1, has undergone significant changes over the past five million years, with 18 of its 118 letters changing between humans and chimps.
A newly discovered gene, HAR1F, has undergone accelerated evolutionary change in humans and is active during critical brain development stages. The gene's role in cerebral cortex development and expansion during human evolution remains speculative but exciting.
Emory scientists have identified and mapped over 400,000 insertions and deletions (INDELs) in the human genome, providing an expanded view of human genetic differences. These variations differ from single nucleotide polymorphisms (SNPs) and are likely to impact human health and disease susceptibility.
A study found that HPV16 and 18 variants persist longer in people whose ancestors are from the same geographical area as the virus. The research suggests that genetic variants specific to racial groups may play a role in persistence. Future studies should examine possible mechanisms behind variant-specific immune evasion.
The NHGRI has announced new sequencing targets, including the Northern white-cheeked gibbon genome, to gain insights into human health and disease. The gibbon genome is unique due to its high number of chromosome rearrangements and segmental duplications.
A study found that alterations in the glucocerebrosidase (GBA) gene contribute to dementia with Lewy bodies (DLB), a common neurodegenerative disease. Researchers sequenced DNA from autopsy samples and identified mutations in the GBA gene in nearly 40% of DLB patients.
Researchers have identified a set of 16 genes that can reliably distinguish carriers of recessive genetic disorders from non-carriers. These genes can be used to develop clinical tests to identify carriers of diseases such as Nijmegen breakage syndrome, which exhibit distinct gene expression patterns compared to controls.
Researchers identified two genes that can produce liver cancer and a gene important to melanoma spread. Genes in these pathways are promising targets for cancer drugs, according to the study. Improvements in genome technology have enabled researchers to filter out non-causal genetic changes and focus on functionally relevant ones.
Research in germ-free mice suggests that certain human gut microbes form strategic alliances to improve digestion of complex sugars, leading to increased fat storage. The study's findings highlight the importance of understanding individual gut microbial communities and their interactions with hosts.
The NIH has launched an effort to make more knockout mouse models widely accessible to the biomedical research community. The initiative aims to deposit existing knockout mouse lines into public repositories, increasing their availability and accelerating the development of new strategies for understanding and treating human disease.
The study reveals a diverse population of over 60,000 genes in the human colon microbiome, including enzymes that help humans digest food. The findings suggest that bacteria in the colon co-evolved with their human host, contributing to our well-being and potentially leading to diseases like inflammatory bowel disease.
A team of researchers led by UB microbiologist Steven R. Gill analyzed the DNA of microbes in the human distal gut using metagenomics. The study found significant differences between two microbial communities from healthy individuals, highlighting the importance of understanding the interactions between human and microbial genomes.
Members of RNAi Global, including Dharmacon and leading research institutes, developed standardized protocols for genome-wide siRNA library experiments. The collaboration aims to accelerate disease and drug research by improving comparability of results between laboratories.
The study found that the two species split no more than 6.3 million years ago and probably less than 5.4 million years ago, suggesting an initial split followed by later hybridization before a final separation. Genome analysis revealed big surprises, with major implications for human evolution.
A recent study has identified copy number variants in chimpanzees that are comparable to those found in humans, indicating regions of the genome may be inherently unstable in both species. This research provides valuable insights into genetic diversity and adaptations in our nearest relatives.
The NYU algorithm uses Bayesian statistics to pinpoint tumor suppressor genes in cancer genomes. By analyzing segmental deletions and spatial relations, the algorithm detects genes that were previously unknown or overlooked.
The Broad Institute scientists will survey DNA of 50,000 individuals using large-scale genotyping technologies and advanced informatics to highlight genetic differences in specific genes. The project aims to accelerate the pace of identifying risk factors and genetic variants associated with human diseases.
A whole-genome study at Johns Hopkins reveals a new gene, NOS1AP, associated with abnormal heart rhythm and increased risk of sudden cardiac death. Approximately 60% of European descent individuals carry a variant of this gene linked to QT interval length.
Researchers found that oxidized nucleobases in human DNA are associated with hotspots of genetic recombination and polymorphism. The distribution of these abnormally placed adenine nucleotides is not random but clustered in chromosomal regions with high meiotic recombination rates.
Researchers discovered erythrovirus genome persistence in human tissues, which is ubiquitous and life-long. The Bioportfolio provides a novel database for analyzing microbial species and their variants, offering potential long-term permanence for gene therapy vectors.
The Baylor Human Genome Sequencing Center has completed the sequencing of human chromosome 3, a significant achievement in understanding the genetic basis of human diseases. This effort involved over 700 researchers from multiple institutions and was an international collaboration between teams from the US, Germany, and China.
Researchers developed a new method to analyze the MHC of the human genome, enabling the study of complex diseases and transplanted organs. The method may also be useful in studying other gene complexes with variability.
Researchers used Genomatix technology to identify new genes associated with renal disease, using comparative promoter analysis to predict cell junction proteins in the glomerular slit diaphragm. The approach effectively predicted a previously unrecognized molecule, which was experimentally verified.
The National Human Genome Research Institute is implementing a comprehensive strategy to identify structural variations in the human genome and sequence mammalian genomes. The effort aims to build a powerful toolbox for advancing human health by filling gaps in knowledge.
Researchers found widespread evidence of evolution in all populations studied, with signals of positive selection detected in genes related to metabolism, skin pigmentation, and brain development. The study identified over 700 recently evolving genes, including the lactase gene, which enabled Europeans to digest milk into adulthood.
Researchers analyzed genetic data from three distinct populations and found roughly the same number of signals of positive selection within each population. The study also identified previously known sites of recent adaptation, such as the lactase gene, which enabled the digestion of milk to continue into adulthood.
Researchers have identified a mutant protein as a key culprit molecule in causing heart disease, including atherosclerosis, which is a leading cause of heart attacks and strokes. The study also sheds light on the progression of progeria, a rare genetic condition that accelerates aging in children.
The rhesus macaque genome shares about 92-95% of its sequence with humans and 98% with chimpanzees, making it an ideal reference point for comparisons among the three closely related primates. The available genome sequence will facilitate studies in human disease research, vaccine development, and comparative genomic analysis.
Researchers have discovered 60 new genes controlled by a specific DNA sequence, known as CArG boxes. These regulatory sequences may hold the key to understanding complex diseases such as heart failure and nerve disorders, which could lead to new treatment options.
Scientists uncover the final steps of retrotransposon replication, revealing how they integrate into human genomes and contributing to genetic disease and genome expansion. The study sheds light on the mechanism behind the accumulation of millions of 'junk' genes.
The Illinois pig project will sequence 2.5 billion chemical base pairs at the Wellcome Trust Sanger Institute in the UK, revealing similarities with the human genome. The completed swine genome is expected to lead to advancements in biomedicine, including transplants and disease treatments.
Researchers identified over 200 cases of TIC involving 421 human genes, finding that genes often reside closer together and share standard splicing machinery. The discovery challenges the 'one gene, one protein' rule and may lead to the development of non-toxic engineered fused proteins for drug applications.
Researchers identified long tracks of genomic segments devoid of transposable elements, known as TFRs, which occur across multiple species. These regions are evolutionarily conserved and associated with critical biological processes.
A new study has challenged previous reports that cannibalism played a significant role in shaping the human genome. The research, published in Genome Research, found a deficit of intermediate frequency variants in the PRNP gene, suggesting a complex history of episodic or fluctuating selection.
An international team of scientists has completed the genomic sequences of three Aspergillus species, including Aspergillus nidulans, A. oryzae, and A. fumigatus. The comparative analysis reveals that both A. oryzae and A. fumigatus have the genetic potential for sexual reproduction, despite being previously thought to be asexual.
A group of 40 leading cancer scientists proposes a Human Epigenome Project to map the chemical modifications to DNA that comprise the epigenetic code. The project aims to unlock the epigenomic information stored in the genome for the benefit of human health.
Scientists have developed new methods to study the connection between regulatory DNA and disease, using a combination of genome-wide associations and cell culture data. The study identified over 3000 genes that could be subject to modification of activity due to common genetic variations.
The NIH has launched a three-year, $100 million pilot project to explore cancer genomics through The Cancer Genome Atlas (TCGA) Pilot Project. This initiative aims to create a systematic framework for identifying and characterizing genetic mutations and genomic changes associated with cancer.
The study unlocked genetic variation among dog breeds, revealing ~2.5 million individual genetic differences among breeds that can be used to locate the genetic contributions to physical and behavioral traits. The analysis also found evolutionary conservation with humans, highlighting regions of the human genome that are highly preserv...
The published dog genome sequence offers insights into genetic factors contributing to human health and disease. The analysis revealed that dogs share common genetic elements with humans and mice, highlighting the importance of understanding the evolution of genomes.
Researchers at the University of Pennsylvania School of Medicine have discovered a human DNA-associated protein called LEDGF that controls where HIV integrates into human chromosomes. This finding has significant implications for improving the design of gene-therapy delivery systems.
Researchers developed a new method to identify linear motifs in protein sequences, which interact with other molecules. The technique uses large-scale studies of protein binding and computer analysis to predict motif patterns.