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 the Genome Institute of Singapore found that 'junk' DNA plays a crucial role in distinguishing humans from other species. These repeats provide a source of evolutionary variability and may hold the key to understanding physical differences between humans and other organisms.
The common cold's immune response, not the virus itself, causes symptoms, according to a comprehensive genomic study. The research identifies therapeutic targets that can balance the immune response and potentially prevent infection.
A new gene, Toll-like receptor 8 (TLR8), has been identified as having a probable role in human susceptibility to pulmonary tuberculosis. The study found that males are more susceptible than females.
The company plans to sequence 1,000 genomes in 2009 and 20,000 in 2010, with a goal of analyzing 1 million genomes over the next five years. This will enable researchers to study disease pathways comprehensively and cost-effectively, driving personalized medicine forward.
Four developing countries are leading the way in establishing domestic capacity for genomic medicine, improving national health, reducing medical costs and bolstering economies. Mexico's program is the most comprehensive, with genotyped over 1,200 people to study genetic relationships with various health problems.
Researchers identified a genetic contributor to fundamental morphological differences between humans and apes, finding that changes in 'junk DNA' activated genes in primordial thumb and big toe in developing mouse embryos. This study suggests non-coding regions of the genome play a crucial role in human development.
Researchers found a gene enhancer, HACNS1, that may have contributed to the evolution of the human opposable thumb and adaptations for walking on two legs. The discovery provides significant insights into genetic differences between humans and chimpanzees.
Researchers discover a 546-base pair element, HACNS1, that enhances gene expression in human limbs and brain, contributing to uniquely human digit patterning. The study highlights the power of conserved noncoding sequences in regulating gene expression across species.
The Trichoplax genome sequence provides a 'Rosetta Stone' for understanding the origins of animal-specific pathways. It shares over 80% of its genes with humans and defines Trichoplax as a branching point of animal evolution.
Researchers have discovered that broken sections of chromosomes can recombine to form new types of chromosomes, leading to genome diversification. This process is mediated by repeated DNA sequences, which account for half of the human genome.
A team of Yale researchers has identified 305 individual proteins that can alter viral infection, including those involved in West Nile and Dengue fever. This discovery may lead to the development of new treatments for a variety of viral infections.
A new study uses next-generation DNA sequencing to uncover genetic signatures of typhoid fever, allowing for improved diagnosis, tracking of disease spread, and potential design of new vaccines. The technology also enables researchers to identify individual organisms causing outbreaks and target vaccination campaigns more effectively.
Eco1 and its human homologue maintain sister chromatid cohesion by affecting Smc3, a key component of the cohesion protein complex. This process is critical for genome stability and cell survival.
The Wellcome Trust Sanger Institute has sequenced 300 human genomes in six months, producing over 1 trillion letters of genetic code. This data will revolutionize human medical genetics and allow researchers to answer questions previously unthinkable.
A newly sequenced lancelet genome confirms a 40-year-old theory that gene duplication drove vertebrate evolution. The study shows that genes quadrupled during the evolution of vertebrates, with most duplicate copies lost.
Three biotech companies, 454 Life Sciences, Applied Biosystems, and Illumina Inc., will contribute to the 1000 Genomes Project by sequencing hundreds of human DNA samples. The project aims to create the most detailed map of human genetic variation for medical research.
Spradling's work on fruit fly genomics revolutionized developmental genetics and biology, advancing understanding of stem cells and their roles in human development and disease. His discoveries have led to new insights into digestive diseases, intestinal cancers, and infection strategies.
Human Genomics and Proteomics is an open-access journal publishing original and review articles on human genomics and proteomics. The journal's affiliation with the FINDbase database provides a platform for discussing research on personalized medicine, systems biology, and genetic disorders across various populations worldwide.
Researchers found that genetic flaws affecting enzyme efficiency can be restored with supplements, offering a personalized approach to health. The study, supported by DARPA, aims to identify variants of enzymes that can be enhanced with vitamin supplementation.
New DNA analysis reveals that the original immigrants to Greenland came from a Siberian population, contradicting previous assumptions about their origins. The study found mitochondrial DNA similarities between ancient Greenlandic hair and eastern Siberia, suggesting a migration route via Alaska and Canada.
Researchers found a common core skin microbiome in healthy individuals, dominated by Proteobacteria species. The study establishes the basis for determining a core microbiome, which may hold the key to novel treatments for skin conditions like acne and atopic dermatitis.
A large genetic study in mice has identified hundreds of genes involved in the development of cancer by examining the DNA of more than 500 lymphomas. The study found almost 10,000 mutations that together implicate around 350 gene regions in cancer formation.
Scientists have developed a new way to estimate the total number of protein interactions in organisms, revealing that humans have approximately 10 times more protein interactions than fruit flies. This study contradicts previous comparisons based on gene numbers, which suggested that humans and fruit flies are relatively similar.
A meta-analysis of over 26,000 participants found two known genes and 10 new ones related to human growth, influencing body size by approximately 3.5cm. The study also revealed connections between microRNA let-7 and other genes, as well as effects on chromatin structure.
The platypus genome provides a comprehensive understanding of the animal's mix of features, including duck-billed snout, venomous spur, and electroreceptors. The analysis compares the platypus genome with other mammals and birds, revealing conserved genes and traits, as well as unique characteristics such as odor receptor expansion.
A team of researchers has cloned nearly all predicted human protein kinase genes in functional form, providing a valuable resource for studying kinase signaling networks. This achievement has significant implications for understanding the mechanisms of various cancers and identifying promising therapeutic targets.
A nationwide team of researchers has produced the first sequence-based map of large-scale structural variation across the human genome. The map reveals new variations and provides a more detailed look at nearly 1,700 structural variations, including deletions, out-of-place insertions, and copy number variants.
Researchers have completed a nationwide consortium to sequence structural variations in the human genome, revealing 1695 regions of variation and discovering previously unknown DNA segments. The study provides a comprehensive map of genetic differences among individuals, shedding light on their role in human health and disease.
Francis S. Collins, a renowned geneticist and former Human Genome Project leader, has been awarded the inaugural Inamori Ethics Prize at Case Western Reserve University. The prize recognizes his outstanding contributions to promoting ethical leadership in genetics and improving human health.
Researchers discovered a preference for certain DNA letters across intron regions and the opposite preference in coding regions, affecting at least a third of the genome. This finding supports previous studies suggesting that non-coding DNA is biologically important.
Researchers have refined the Y chromosome haplogroup tree using genetic variations, resolving branches and estimating time to ancestral common ancestors. The updated tree provides new interpretations on geographical origins of ancient sub-clades and sheds light on the ancestry of major haplogroups such as E, O, S, and T.
The Boston College lab's proprietary PyroBayes software can analyze half a million DNA sequences in 10 minutes, significantly improving computational speed and accuracy. This technology has the potential to decode individual genomes at a lower cost, enabling researchers to study genetic causes of diseases and traits in animals.
Researchers from UCLA used high-resolution technique array CGH to examine the genome of two human embryonic stem cell lines, finding differences in gene numbers that could impact disease susceptibility and therapeutic applications. These differences can provide a unique genetic fingerprint for each line, enabling researchers to choose ...
Researchers have developed new mathematical models to infer ancestral origins from genomic data, significantly improving accuracy. Additionally, a novel technique for mapping disease genes using admixture linkage disequilibrium has been created, offering a powerful approach for identifying genetic determinants of common diseases.
The study characterizes over 500,000 DNA markers in the human genome and examines variations across 29 populations on five continents. It reveals a wealth of information about human migration patterns, genetic diversity, and disease-related genes.
A genetic variant in the Reelin gene significantly increases the risk of developing schizophrenia in women, according to a recent genome-wide association study. The study analyzed DNA from patients with schizophrenia and healthy controls across multiple populations, identifying a common variant that affects women only.
PARP-1 and histone H1 compete for binding to gene promoters, with PARP-1 turning genes on. The study reveals a surprising number of genes are kept on by the presence of PARP-1.
Scientists have discovered two common gene variants that regulate recombination rate in humans, which varies between men and women. These variants enable the distribution of evolutionary work between sexes, promoting genetic diversity while maintaining genome stability.
A new resource identifies regions of the human genome that regulate gene expression, shedding light on biological processes and potential disease mechanisms. The study's findings may aid in developing treatments by turning harmful genes off or increasing helpful ones.
A recent study by McGill researchers has identified that small genetic variations can significantly affect the way genes produce proteins, resulting in diverse physical characteristics. These changes may contribute to the development of diseases such as cystic fibrosis and Type 1 diabetes.
Researchers at Princeton University found a new biological mechanism that enables ciliate cells to pass on acquired traits to their offspring, bypassing their DNA genetic program. This discovery has implications for understanding cellular processes and natural regulatory mechanisms.
Advances in genome sequencing and single-nucleotide polymorphisms have revealed the vast differences in human DNA, enabling researchers to identify disease-related genes and risk factors. The study also highlights the potential of 'copy number variants' and induced pluripotent stem cells to improve our understanding of genetic activity.
The Human Microbiome Project aims to understand the interactions between microorganisms and the human body, with potential applications for preventing, diagnosing, and treating diseases. The project will sequence microbial genomes from over 1,000 sources, including healthy volunteers and those with specific diseases.
A new approach to gene prediction, CONTRAST, leverages multiple genomes to identify protein-coding genes with high accuracy. The technique directly learns useful features from genomic alignments, leading to significant improvements over existing methods.
Researchers found 26 losses of long-established genes in the human lineage, including 16 previously unknown cases. The study identified a gene for acyltransferase-3 that was lost in humans but still functional in chimpanzees and possibly gorillas.
A recent genome study found that positive selection has occurred at a rate roughly 100 times higher in the past 5,000 years compared to other periods of human evolution. The study, led by University of Wisconsin-Madison anthropologist John Hawks, identified 1,800 genes with recent genetic changes, driven by major cultural shifts such a...
A recent study published in Nature Genetics analyzed mutant sperm cells to identify genes involved in disease, revealing that duplications are less frequent than deletions in certain regions. The findings suggest improved diagnosis for genomic diseases and a new approach to predicting disease-causing variants.
Researchers have discovered 156 new likely imprinted genes in the human genome, including those linked to cancer, diabetes, and autism. The findings offer clues to better disease prevention and management.
Researchers at Cornell University have identified over 300 new human genes using a comparative approach to the genome. These newly discovered genes are involved in various biological processes, including motor activity, cell adhesion, and central nervous system development.
Research on human RecQ helicases reveals their role in regulating homologous recombination, a DNA repair pathway. Mutations in these enzymes cause cancer-predisposition syndromes, highlighting their importance in maintaining genomic stability.
Researchers at University of California San Diego propose alternative fragile breakage model to explain genomic rearrangements. The study reveals the existence of rearrangement hotspots in mammalian genomes, supporting a major advance in the debate over this topic.
A global research consortium sequenced 12 closely related fruit fly species, revealing thousands of novel genes and functional elements. The study highlights how evolution has shaped the fruit fly genomes, shedding light on fundamental biological processes.
New fly genomics research provides a comprehensive view of adaptive protein evolution, revealing the role of adaptation in evolution and human genome uniqueness. The study found that stretches of DNA with high variability in Drosophila simulans did not match up with areas of divergence between species.
The Drosophila 12 Genomes Consortium's massive collaboration has revealed considerable flaws in the way human genome biologists identify genes, showcasing the importance of comparing closely-related species. The study found over 1,193 new protein-coding genes and hundreds of new functional elements across 12 fruit fly genomes.
The complete genomes of 12 Drosophila species were published in Nature, revealing genetic differences similar to those between humans and chickens. This research provides a less-biased view of evolutionary processes, enabling a better understanding of the human genome.
Cold Spring Harbor Laboratory scientists have developed a novel, low-cost method for sifting the human genome's high-value regions. The technique, called selective resequencing, enables researchers to target specific areas of interest and extract valuable genomic data from relatively small DNA samples.
A comprehensive analysis of the genomic changes underlying lung cancer has uncovered a critical gene alteration not previously linked to any form of cancer. The study revealed over 50 genomic regions frequently gained or lost in lung adenocarcinoma, with one region pinpointing an important gene that controls lung cell growth.
A comprehensive genome analysis of lung cancer cells has identified more than 50 frequent genetic changes, with less than half involving known cancer genes. The study also uncovered a critical gene alteration not previously linked to any form of cancer, shedding light on the disease's biological basis.
The domestic cat genome has been successfully sequenced, revealing approximately 65% of its euchromatic regions. The analysis identified 20,285 putative genes and hundreds of chromosomal rearrangements among mammals, shedding light on feline health and human disease.
Maynard Olson receives $500,000 Gruber Genetics Prize for his groundbreaking work on genome mapping and its potential to revolutionize personalized genomics. The prize honors his contributions to breaking down the human genome into manageable pieces.