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 created detailed maps of regulatory DNA switches that dictate gene expression and developed a dictionary of the genome's programming language. The findings greatly expand our understanding of how genes are controlled and how this control may differ between normal and diseased cells.
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.
The study suggests that three-quarters of the human genome can be transcribed into RNA, leading to a redefinition of what defines a gene. This implies that many regions previously thought to be non-functional may have functional roles.
The ENCODE Project presents new genomic insights on gene regulation, including detailed annotations of the genome and analysis of long non-coding RNAs. The project sheds light on co-transcriptional splicing and the evolution of microRNAs, offering a comprehensive understanding of human gene function.
About 80 percent of the human genome is found to be biochemically active, regulating nearby genes and influencing expression in different cells. The discovery helps understand how mutations in regulatory elements lead to diseases like lupus and diabetes.
The ENCODE project reveals a massive control panel in the human genome, with 4 million gene switches, to regulate gene expression and prevent disease. The comprehensive data will help researchers pinpoint specific areas for human disease research.
A comprehensive transcriptome analysis of human ENCODE cells reveals widespread RNA transcripts and epigenetic links, assigning biochemical functions to 80% of the human genome. The study provides powerful data sets for delineating functional elements across the human genome.
A collaborative five-year project involving over 440 researchers worldwide has published a comprehensive understanding of the human genome's functions. The ENCODE study found that over 80% of the human genome sequence is linked to biological function, and mapped over 4 million regulatory regions where proteins interact with DNA.
Scientists have assigned functions to 80% of human genome, providing insights into gene regulation and solid genetic foundation for understanding health and disease. The UCSC Genome Browser offers a gateway for worldwide researchers to explore this new encyclopedia.
The ENCODE project has assigned biochemical functions to 80% of the human genome using data from 1,649 experiments. The team identified over 4 million sites that affect biological function through binding specific proteins. These findings provide a critical map of tens of thousands of genes and regulatory switches.
The ENCODE project has unveiled that over 80% of the human genome is associated with biological function, while proteins switch genes on and off regularly. The study provides insights into genetic information control and expression in specific cell types, shedding light on disease susceptibility.
Researchers found that benign malaria parasite P. vivax drives genome evolution in humans, challenging the long-held assumption that P. falciparum is the only malaria species to do so.
The Denisovan genome was completely sequenced, revealing its genetic connections to modern humans and Neandertals. The study found that the Denisovans shared more genes with populations from southeastern Asia than with those in other parts of Asia.
Researchers created the most comprehensive study of Epstein-Barr virus genome interactions with its human host. The EBV atlas describes over 60 human transcription factors and highlights the extensive coevolution of the virus, pointing toward possible targets for future cancer and anti-viral drugs.
Researchers identified NMNAT1 mutations as a cause of Leber congenital amaurosis, a leading cause of inherited blindness in children. The study provides important evidence for gene therapy targeting NMNAT1.
Current genomic research resources and bioinformatics methods are insufficient for personalized genomic medicine, citing shorter linkage disequilibrium regions and unprobed variants.
A new algorithm developed by MIT and Harvard researchers drastically reduces the time it takes to find a particular gene sequence in a database of genomes. The more genomes it's searching, the greater the speedup it affords.
The yak genome provides new insights into high-altitude adaptation, with distinct gene expansions related to sensory perception and energy metabolism. The study also identified genes that may play important roles in regulating body response to hypoxia and optimizing energy from poor foods.
Researchers at UC San Diego mapped nearly 300,000 mouse cis-regulatory elements, annotating 11% of the mouse genome and identifying conserved non-coding sequences shared with humans. The study provides insights into the functional organization of genes and their regulation in different tissues and cell types.
Researchers sequenced the bonobo genome to identify key differences with humans and chimpanzees, finding over 2.5 million transposon insertions unique to the bonobo genome. These findings may help understand the genetic basis for traits shared among humans, chimpanzees, and bonobos.
A comprehensive census of the microbial make-up of healthy humans identified over 10,000 species of microbes occupying various body sites. The research found unique communities of microbes in every site, with skin hosting the most diverse collection, while teeth and gums had distinct microbiota profiles.
The completed bonobo genome reveals evolutionary relationships with chimpanzees and humans, differing by approximately 1.3% from both species. Analysis suggests a clean split between bonobos and chimpanzees, supporting the hypothesis that the formation of the Congo River separated their ancestors.
Researchers mapped the normal microbial make-up of healthy humans, shedding light on vital tasks such as immune system support and food digestion. The study reveals a unique personal microbiome for each individual, with over 10,000 species occupying the human ecosystem.
An international study reveals that the epigenome of newborns and centenarians differs, with older individuals showing a distorted epigenome that has lost key switches. Reversibility of this process is possible through dietary changes or drug use.
A team of researchers identified a unique set of cells at the squamocolumnar junction that express biomarkers found in all forms of invasive cervical cancers linked to HPV. These cells do not regenerate when excised, which has significant implications for diagnosis, prevention, and treatment of cervical cancer.
A whole-genome sequencing study found that HBV integration is a common event in liver tumors, associated with tumor size, serum HBsAg levels, and α-fetoprotein. The study identified three novel genes linked to recurrent HBV integrations, which may lead to targeted therapies for liver cancer.
A recent study found that rare variations in the human genome, which occurred following a population explosion, may influence susceptibility to common diseases. The researchers analyzed the genetic code of over 2,400 individuals and discovered more than half a million single-letter DNA changes, many of which were predicted to be harmful.
Recent LSU research has found that orangutans are host to ancient Alu jumping genes more than 16 million years old, which can copy themselves using a method similar to retroviruses. This discovery represents only the second study to identify a driver Alu element and provides promising new evidence for Alu propagation in orangutans.
A gene duplication, occurring 2.4 million years ago, allowed maturing neurons to migrate farther and develop more connections. This extra copy of the SRGAP2 gene interfered with its original function, effectively giving neurons more time to wire themselves into a bigger brain.
The Chromosome-Centric Human Proteome Project (C-HPP) is an ambitious international initiative that aims to identify and profile all human proteins. The project, which involves 20 scientific teams, will focus on 'missing' proteins and determine their functions in health and disease.
A geneticist has developed a technique to test the functional differences of human gene variants using yeast cells. This method identified 37% of alleles associated with vitamin B6 supplementation for treating homocystinuria, a metabolic disease causing blood clots and mental retardation.
The lobSTR algorithm accelerates DNA profiling by accurately analyzing over 100,000 short tandem repeats in a single day. This innovation opens up new research opportunities in medical genetics, population genetics, and forensics.
Researchers at ORNL and Yale created a nanopore with radio-frequency electric field to trap segments of DNA and other biomolecules. The 'aqueous virtual pore' allows for controlled movement of DNA through the nanopore without physical walls.
Khan Academy and 23andMe are collaborating to educate people about genetics and the Human Genome Project. The partnership provides free educational resources, including video series and interactive tools, to help individuals understand their own genetic information.
Scientists have developed a new technique to determine which patients with homocystinuria are most likely to respond to vitamin B6 treatment based on their genotypes. The study correlates specific gene mutations with disease severity and may help physicians prescribe treatment based on genotype.
Researchers have created a genetic map of recombination in chimpanzees, showing that hotspots differ significantly from those in humans. The study reveals the complex evolution of this process, which drives genetic diversity and adaptation.
The gorilla genome sequence provides a unique perspective on human origins, revealing that 15% of the human genome is closer to the gorilla genome than it is to the chimpanzee. The study also illuminates genetic differences between gorilla species and highlights the importance of conservation efforts for these endangered populations.
Dr. Chris Overall's research has led to a better understanding of the human proteome, revealing key proteins controlling innate immunity and inflammation. His team discovered a molecular beacon that directs white blood cells to injury sites, stopping chronic inflammation.
Researchers identified 72 mutations in the TTN gene that cause structural deformations in heart muscle fibers, leading to heart muscle disease. The study found that TTN gene mutation causes DCM, but rarely causes hypertrophic cardiomyopathy, and that outcomes for patients with DCM are similar regardless of gender.
A new paradigm by Dr. Ehud Lamm redefines the genome as a dynamic system that can impact genes themselves, highlighting its physiological aspect. This perspective could provide deeper insight into how organisms develop and evolve.
Researchers identified 22,688 RNA editing events, with most converting adenosine to inosine. The study suggests a potential connection between RNA editing and miRNA-mediated regulation.
Researchers at the Genome Institute of Singapore have made a groundbreaking discovery by mapping the human genome's three-dimensional structure, revealing how genes interact and influence each other. This study sheds light on the complex regulation of gene expression and its implications for understanding human diseases.
Researchers identified 31 genetic regions associated with circulating metabolites, including biomarkers for cardiovascular disease and type 2 diabetes. The study provides new insights into the biological processes leading to common diseases, suggesting that detailed data on multiple metabolites can help elucidate these processes.
A clinical trial will be conducted to test the use of whole genome sequencing in medicine, with patients receiving either standard care or no genomic sequencing. The goal is to accelerate personalized genetic medicine and improve patient outcomes.
A nationwide research collaborative found that serious traumatic injuries, including major burns, elicit a highly reproducible genomic response in human immune cells, altering around 80 percent of normal gene expression patterns. The study contradicts the widely accepted theory of an initial pro-inflammatory response followed by an ant...
The NHGRI Genome Sequencing Program will prioritize medical applications and rare inherited diseases over the next four years, with a $416 million investment. The program aims to identify genetic causes of Mendelian disorders and accelerate diagnosis and treatment.
Researchers at GIS developed a systematic approach for accurate DNA sequence reconstruction using the Opera algorithm, providing a quality guarantee and scaling to large datasets. This breakthrough enables more complete and accurate draft genomes, driving genetic studies of organisms of interest for human health and other areas.
Erez Lieberman Aiden has developed a method for three-dimensional genome sequencing, creating the first genome-wide spatial map of the human genome. The study reveals that active and inactive genomic regions are separated inside the nucleus, suggesting an 'epigenetic mark' that regulates gene expression.
Researchers found distinct binding patterns of tumor suppressor protein p53 with the entire genome in normal human cells compared to cancer cells. The study reveals a link between p53 function and human epigenome.
Researchers at University of Cambridge have mapped DNA methylation in human heart, revealing its connection to environmental factors such as diet and lifestyle. The study provides new insights into the genetic changes that can lead to heart disease and potential ways to identify and treat it.
Plant pathologists discovered a gene with varying intron lengths in fungus M. graminicola, challenging conventional models of intron presence-absence polymorphisms. The study sheds light on genome evolution and suggests natural selection may play a role in intron fixation.
Researchers identified a portion of the genome mutated during long-term culture of human embryonic stem cells, which may compromise their utility for regenerative medicine. The study highlights the importance of understanding genetic changes in hESCs and their potential impact on cell therapy applications.
Researchers discovered a correlation between low-frequency genetic deletions and decreasing height, suggesting that an excess of rare gene deletions may contribute to short stature. The study found that uncommon genetic deletions are associated with short stature in human subjects.
BGI unveils new global collaborative projects including the Million Genomes Project, Rice Genome Project, and 1% Danes' Genome Project. These initiatives will advance our understanding of species genome, agricultural productivity, and human disease. The projects aim to sequence millions of genomes to improve crop yields, develop person...
The Ontario Genomics Institute's Toronto Centre of Genomic Services (TCAG) has received a $5 million injection to continue providing cutting-edge genomic services. Led by Dr. Stephen Scherer, TCAG supports over 1,600 labs worldwide in various disciplines.
A collaborative study by the University of Melbourne and BGI sequenced the draft genome of Ascaris suum, a parasitic roundworm of pigs. The study provides a comprehensive resource to combat ascariasis and other nematodiases, with potential drug targets identified.
Scientists at Texas Biomedical Research Institute and Yale University found a new biomarker that may help identify people at risk for major depression. The study analyzed over 11,000 endophenotypes in blood samples from 1,122 individuals and identified a gene called RNF123 linked to disease risk.
The Protein Structure Initiative-Materials Repository will receive a $6.5 million grant to collect, annotate, store, and distribute plasmids for protein expression and study. This will facilitate the understanding of protein functions in human health and disease.
A new Scripps Health study aims to fill the knowledge gap on idiopathic human diseases by using whole genome sequencing to determine their causes. The study, dubbed IDIOM, will include up to six participants and collaborate with other medical centers to share key findings.
Researchers sequenced the genomes of two non-human primate species, Chinese rhesus macaque and cynomolgus, and compared them with a previously sequenced Indian rhesus macaque. The study reveals abundant genetic heterogeneity among the three macaques, which may facilitate biomedical analysis and application.