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 have discovered a selfish genetic element, known as Segregation Distorter (SD), that skews genetic inheritance. SD has caused dramatic changes in chromosome organization and genetic diversity, leading to the accumulation of deleterious mutations.
Researchers found that different lineages of Cryptosporidium parvum are increasingly exchanging their DNA, which helps the parasite evolve faster and potentially result in more virulent strains. The study suggests that globalization and close contact with animals increase the rate of genetic exchange.
A new analysis of ancient and contemporary genomes shows that more than half of historical groups experienced founder events, leading to reduced genetic diversity. This research has significant implications for scientists studying human genetic variation and the discovery of disease-causing mutations.
A new study reveals that over half of human populations worldwide have experienced sharp dips in population size due to founder events, associated with geographic isolation, hunter-gatherer lifestyle, or cultural practices. This analysis technique, ASCEND, will help identify groups at high risk of genetic diseases.
Researchers have developed a new method to assess the three-dimensional structure of the human genome, revealing that groups of simultaneously interacting regulatory elements may affect gene expression. The study found that cooperative groupings of DNA elements occurred around genes associated with cell identity.
Researchers at Nagoya University created a 3D model of the human genome structure, analyzing its dynamics and functions. The study provides new insights into chromatin distribution, cell division, and transcription regulation, shedding light on cellular processes and potential disease mechanisms.
The June 2022 issue of GEN Biotechnology features groundbreaking research on adenine base editing, which could lead to more precise and safer genetic therapies. Additionally, the journal explores racial disparities in biotech leadership and advocates for improving diversity, equity, and inclusion.
A Rutgers study predicts a woman's risk of miscarriage based on her genome, providing valuable insights for reproductive choices and fertility treatment plans. The researchers developed an algorithm using machine learning methods to identify genetic variants associated with aneuploidy in human eggs.
Researchers analyzed 16 ancient genomes from Wallacea, revealing striking differences between regions and a previously unknown ancestry contribution from Mainland Southeast Asia. The findings suggest multiple human dispersals into Wallacea and major implications for the understanding of Neolithic dispersals into Island Southeast Asia.
A new study examines mathematical models designed to draw inferences about how evolution operates at the level of populations of organisms. The researchers conclude that such models must be constructed with care, avoiding unwarranted initial assumptions and weighing existing knowledge.
Researchers found five sites on the oxytocin and vasotocin receptors where modern humans are unique compared to archaic humans and non-human primates, affecting social behaviors such as autism and aggression. These variants are highly functional and active in brain regions involved in social cognition.
A study found that Brazil's Salmonella vaccine for poultry contributed to the emergence of antibiotic-resistant strains. However, these resistant bacteria have not increased food poisoning cases in humans in the UK.
Researchers emphasize the need for targeted recruitment to make genetic tests clinically useful for non-European groups. By addressing cultural concerns and underrepresentation, efforts can reduce the incidence of variants of uncertain significance (VUS) in genetic databases.
Researchers discovered that ancient retroviruses embedded in human genome can undergo retrotransposition into iPS cells, potentially posing a risk for regenerative medicine. The study found that HERV-K is expressed in SOX2-expressing cells and may cause cancer and neurological diseases by altering gene expression profiles.
Scientists have successfully sequenced the first human genome from an individual who died in Pompeii, Italy, after the eruption of Mount Vesuvius in 79 CE. The study provides new insights into the genetic history and lives of the population, including evidence of high levels of genetic diversity across the Italian Peninsula.
A new genome-editing strategy called DAP array can correct dozens of errors at the same time with high precision and efficiency, avoiding off-target edits. The technique leverages tRNA to drive multiple guide RNAs on a single array, then released individually by cells to direct genome editors for edits at multiple human genomic sites.
Researchers at Gwangju Institute of Science and Technology have developed a new bioinformatics pipeline, CRESSP, to investigate the mechanism underlying autoimmune diseases following SARS-CoV-2 infection. The tool identified potential epitopes responsible for COVID-related autoimmune diseases and predicted cross-reactive epitopes of di...
The 5th annual Mutational Scanning Symposium will take place in Toronto on June 13-14, bringing together experts to discuss key topics in personalized medicine and variant effects. Keynote addresses by Drs. Doug Fowler and Clare Turnbull highlight the importance of interpreting genetic variants for personalized treatment.
Inversions in the human genome are more common than previously believed, according to a recent study. The researchers found that these genetic variations can lead to genomic instability and an increased risk of certain diseases, including developmental delays and neuropsychiatric disorders.
CHOP researchers developed CancerVar, an artificial intelligence-empowered platform for interpreting somatic cancer mutations. The tool provides standardized procedures for assessing the clinical impacts of over 13 million somatic cancer mutations.
Researchers have identified a new strain of the myxoma virus that has enabled it to leap from European rabbits to Iberian hares, causing lethal disease in both species. The study suggests that this viral adaptation may also improve the virus's ability to replicate in human cancer cells.
Researchers from The University of Texas Health Science Center at San Antonio have identified 33 genes associated with Alzheimer's disease, doubling the known list. This discovery adds 42 new genetic variants to the existing gene list, shedding light on emerging pathways of Alzheimer's biology and potential treatment targets.
A recent study by Cornell scientists explores the relationship between human genetics and gut microbiome functions, identifying correlations between genetic variations and microbiome-associated traits. The research, led by Ilana Brito, uses a novel computational approach to model the distribution of functions and species within the hum...
A new study from MIT suggests that genome loops, which were believed to play a crucial role in controlling gene expression, are actually short-lived and fleeting. The researchers found that these loops only exist for about 3-6% of the time and last for only 10-30 minutes.
A new study has shown that increasing genetic diversity can improve researchers' ability to identify important genetic markers for health conditions. The study, which analyzed data from over 470,000 Hispanic/Latino individuals, identified 42 previously unidentified regions of the human genome related to BMI, height, and waist-to-hip ra...
Researchers have deciphered the structure of the kinetochore corona, a complex protein assembly that plays a pivotal role in chromosome segregation. The study, published in The EMBO Journal, provides new insights into how this critical process is regulated and offers a framework for future studies on cell division.
A large-scale genetic study has identified 287 genomic regions associated with schizophrenia and 120 specific genes linked to the disorder. These findings provide new insights into the biological processes underlying schizophrenia, offering potential avenues for novel therapies.
Researchers at Northwestern University used CRISPR to identify human genes important for HIV infection in blood cells, finding 86 genes that may play a role in replication and disease. The study proposes a new map for understanding how HIV integrates into the DNA and establishes chronic infections.
Scientists have successfully sequenced an entire human genome, filling in gaps that were previously unknown or difficult to read. The achievement marks a major breakthrough in understanding the complexities of human genetics and has the potential to reveal new insights into evolution, disease, and adaptation.
The new T2T reference genome adds nearly 200 million base pairs of novel DNA sequences, including 99 genes likely to code for proteins. This completes the first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
A complete, gapless genome sequence has been completed for scientists and physicians, revealing new details about the region around the centromere. The newly sequenced genome provides insights into human genetic variation and may hold clues to the evolution of our ancestors in Africa.
Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.
A large international team has revealed the final eight percent of the human genome, containing noncoding DNA with crucial roles in cellular functions and potentially linked to cancer. The completed sequence provides new insights into cell division and disease mechanisms.
The completed human genome assembly has revealed new insights into human evolution and diseases. Researchers found that highly repetitive regions, including segmental duplications, contain genes critical for brain development and function. These findings shed light on the genetic factors that make humans distinct from other primates.
A new Brazilian database of whole-genome sequences brings diverse genetic information to international databases, shedding light on the genetics of aging and disease in Brazil's elderly population. The study identified over 2 million novel genetic variants, providing insights into the health and well-being of older adults.
A new CNIC study warns that mitochondrial therapeutic interventions can cause damage due to the mixing of mitochondrial DNAs from two distinct origins. This can lead to medium- and long-term health issues, including heart failure, pulmonary hypertension, and muscle loss.
Scientists developed a powerful new tool called Giraffe to improve genomic research by leveraging global genetic diversity. The tool allows for the use of a diverse pangenome reference point, enabling faster and more sensitive comparisons of short-read human genome sequences.
The green Mediterranean diet induces specific microbial changes in the gut microbiome, enriching with bacteria that positively affect glucose metabolism and insulin sensitivity. This novel diet also promotes genetic pathways involved in reducing branched-chain amino acids linked to insulin resistance.
Researchers surveyed over 26,000 genetic genealogy participants about their experiences discovering previously unknown relatives. Most reported learning the identity of at least one relative, with some finding close family ties and others experiencing life-changing discoveries.
Researchers from the University of Oxford's Big Data Institute have created a single genealogy tracing the ancestry of all humans, combining genome sequences from eight databases and 3,609 individual genomes. The study successfully recaptured key events in human evolutionary history, including migration out of Africa.
A research group at the University of Helsinki has discovered the logic controlling gene regulation in human cells. They found that individual transcription factors contribute to gene regulation in an additive manner and identified regulatory elements that function within closed chromatin regions.
Researchers introduce a genetic mutation that reduces Alzheimer's risk by preventing amyloid plaque formation. The mutation, found in Icelanders, has no known disadvantage and may be used to treat familial and sporadic forms of the disease.
A team of scientists has identified hundreds of new genomic loci associated with brain structure, shedding light on how the human brain is shaped. The study used genetically informed brain atlases to uncover the largest number of genetic variants linked to cortex size and thickness.
The study behind PopHumanVar explores how human genomes have adapted to environmental pressures and dietary changes throughout history. The database allows for the identification of specific mutations responsible for adaptive events, such as lactose digestion in European populations.
A study published in Neuron suggests that oligodendrocytes and immune cells may play a crucial role in multiple sclerosis (MS) development. The research found that genetic mutations near immune genes can activate nearby genes in oligodendrocytes, potentially leading to misfunction and MS risk.
Researchers are developing new methods to identify and characterize unknown proteins, including those with multiple forms and modifications. Artificial intelligence-based tools are also helping predict protein structures and functions, providing clues to their roles in health and disease.
A team of researchers at Harvard's Wyss Institute and ETH Zurich have developed a computational approach to identify genomic safe harbors (GSHs) with high potential for safe insertion of therapeutic genes. The study validated two GSH sites in adoptive T cell therapies and in vivo gene therapies for skin diseases.
Scientists have developed a novel CRISPR-Cas3 editor from the bacteria Neisseria lactamica that improves editing efficiency and is more easily produced. The tool enables 50% editing efficiency in stem cells and 95% efficiency in other human cell lines, paving the way for research in genetic diseases and developmental biology.
A new cloud-based platform called AnVIL grants easy access to one of the world's largest genomics databases, providing thousands of analysis tools and over 300,000 genomes. Researchers can now collaborate effortlessly, without the need for massive data downloads, and make exciting new discoveries
Researchers found that plants have evolved a way to protect their most important genes from mutation, which has significant implications for understanding crop domestication and cancer. The study discovered non-random patterns in DNA mutations, with essential genes overrepresented in regions where mutations are rare.
Scientists have discovered recently evolved regions in the 'dark genome' that code for proteins associated with schizophrenia and bipolar disorder. These protein biomarkers could help distinguish between the two conditions and identify patients at risk of psychosis or suicide.
Two studies highlight significant migration to Great Britain that replaced 50% of the island's ancestry during the Late Bronze Age. The analysis also reveals a dramatic increase in milk tolerance around 1200 B.C., providing new insights into dairy consumption in Britain.
Weill Cornell Medicine researchers have developed a new approach to analyze genetic mutations associated with spina bifida, shedding light on this complex birth defect. The study uses machine learning to identify genes and molecular pathways relevant to neural tube closure.
Researchers have introduced a new tool, Giraffe, that can efficiently map new genome sequences to a 'pangenome' representing many diverse human genome sequences. This approach allows for a more comprehensive characterization of genetic variations and reduces mapping bias.
Researchers discovered that HIV chooses its viral RNA genome based on a two-nucleotide difference, which could be targeted by new drugs. This finding has implications for future HIV treatments and is an important scientific step towards understanding the virus's replication process.
A study found that specific DNA changes influence bowel habits and predisposition to IBS. Genetic profiles were correlated with questionnaire data, identifying regions of the genome involved in gut motility. This discovery may lead to new drug targets for treating constipation, diarrhoea, and dysmotility syndromes.
Researchers have developed a polygenic risk score using diverse genomic data to predict elevated low-density lipoprotein cholesterol levels. This improves identification of genomic variants associated with blood lipid levels and provides a more accurate estimate of individual risk for heart disease.
Researchers at the University of Missouri have developed a free online resource that speeds up data analysis of human genomes three times faster than current methods. This enables scientists to see how an individual's genome makes them susceptible to different diseases in different ways, ultimately reducing associated costs and increas...
The Human Proteoform Project aims to characterize known proteoforms and discover new ones, ultimately establishing a comprehensive Human Proteome Atlas. This atlas will enable researchers to accelerate biomedical research and discovery, leading to improved diagnosis and treatment of diseases.