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 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.
A $500,000 CZI grant enables TGen's international team to create a genetic biobank for Indonesia, increasing ethnic diversity in human genomics research. The project aims to characterize healthy immune systems among urban and rural communities, providing benefits for Indonesian doctors and patients.
A new study published in The American Journal of Human Genetics found that 76.3% of participants who received actionable genomic results were unaware they carried increased risk variants, even though half met clinical criteria for genetic testing. Comprehensive sequencing revealed previously missed variants, emphasizing the need for mo...
Researchers developed a viral panel that enables simultaneous testing for SARS-CoV-2 and common respiratory viruses, providing insight into coinfections and viral spread. The tool helps predict and mitigate future outbreaks by tracking novel viral variants and their patterns of spread.
The study provides a unique genomic blueprint for understanding the complex mechanisms linking obesity with comorbidities like type 2 diabetes and cardiovascular diseases. The Ossabaw pig's genome is highly relevant to humans, making it an ideal model for studying human obesity.
A new study identified thousands of protein connections to various human diseases, suggesting a common origin in the genome. This approach linked genetic variations to specific proteins, providing insights into disease mechanisms and potential treatment strategies.
A new AI-powered algorithm, GEM, has been developed to quickly identify genetic causes of serious disease in newborns. The technology leverages machine learning and natural language processing to analyze vast amounts of genomic data and clinical records, achieving an accuracy rate of 92% compared to existing tools.
Researchers developed an integrated framework combining single-cell and metagenomics to characterize microbes. The approach showed higher accuracy and precise binning, revealing more bacterial genera and intra-species diversity.
A new research center will use genomic data and socioeconomic factors to better predict health outcomes in individuals of diverse ancestry. The center aims to develop computational tools to combine large datasets and analyze them for consistent relationships among admixed populations.
A high-resolution map of Arab and Middle Eastern population genetics has been unveiled, providing new insights into human history in the region. The study revealed that ancient populations in the Arabian Peninsula played a central role in early human migration out of Africa.
A new algorithm developed by Carnegie Mellon University researchers offers a powerful tool for illustrating genome folding in cell nuclei. The Higashi algorithm analyzes chromatin interactions using single-cell Hi-C technology, revealing detailed variations in genome organization from cell to cell.
Researchers have identified a shortened version of the human growth hormone receptor gene, GHRd3, which may help people survive in situations where resources are scarce or unpredictable. The study found that this variant emerged around 1-2 million years ago and was more prevalent in ancient humans and Neanderthals.
The NIH will renew funding for the Clinical Genome (ClinGen) resource, which collects and archives information on clinically relevant genes and genomic variants. This expansion aims to improve the effectiveness, transparency, and validity of clinical genomics research.
New study finds that modern Japanese populations have a tripartite genetic origin, with contributions from Jomon hunter-gatherers, Yayoi farmers, and Kofun peoples. The analysis reveals a complex history of population dynamics, including assimilation rather than replacement during the agricultural transition.
Researchers at MIT and Institut Pasteur have created an efficient method for assembling entire genomes, including the human genome, in minutes using personal computers. This approach uses minimizer-space de Bruijn graphs to store only a small fraction of nucleotides while preserving overall genome structure, enabling faster processing ...
The NIH is funding a $185 million research initiative to study genomic variation and its impact on human health and disease. The project aims to identify relevant genetic variants for clinicians, leading to improved treatment options.
Researchers at UC San Diego will use $6.4 million in NIH funding to study the influence of external signals on insulin production in beta cells. They aim to create a roadmap of genetic variations that can predict changes in insulin output, which may help prevent and treat diabetes.
The university will lead the data and administrative center for a multicenter project investigating how variations in the human genome sequence affect its function. Researchers aim to identify which genomic variants are relevant for health and disease, improving understanding of human health and developing new treatments.
Researchers analyzed ancient DNA from victims of epidemics in Mexico and found evidence of newly introduced viruses, including smallpox, measles, and mumps. The study suggests that European colonists brought these viruses to North America, contributing to devastating epidemics among Indigenous communities.
Researchers identified a minimal set of defined factors that can convert normal human fibroblast cells to liver cancer cells, providing a mechanistic proof-of-principle for understanding why certain mutations cause cancer in particular tissues.
Researchers at KAIST used whole-genome sequencing to track human embryonic development from fertilized egg to fully grown adult. The study identified key characteristics of the developmental process, including mutation rates and unequal cell contribution.
A 7,000-year-old human skeleton from Sulawesi has provided new insights into ancient human relations. The genome analysis shows a connection to the first modern humans to reach Oceania and a mix of Denisovan and Asian genetic components.
A new study has identified 20 genetic regions linked to face shape in East Africans, highlighting the importance of diverse populations in understanding human facial features. The findings also reveal that shared genetic factors contribute to similarities across populations, while population-specific variants drive differences.
Researchers reconstructed genetic histories and social organization in two ancient Croatian sites, uncovering a diverse population with little biological kinship. The study found that individuals from different burial rites had similar genetic ancestry, but also identified endogamous mating practices and patrilocal social organization.
Researchers found Philippine Negrito ethnic group, Ayta Magbukon, possess the highest level of Denisovan ancestry in the world. Their Denisovan DNA is up to 46% greater than that of Australians and Papuans.
A new study has pinpointed nine processes that lead to most human genetic mutations, including inaccurate DNA copying and chemical damage. The research analyzed 400 million rare DNA variants and identified a set of biological processes responsible for heritable human mutations.
Researchers at the University of Helsinki have made a significant advance in fibroids research by identifying a new mechanism of tumorigenesis. Multiple tumors carried mutations in genes involved in histone trafficking, which affected gene expression levels and led to hereditary predisposition to the disease.
A new study generated 137 whole-genome sequences from eight Middle Eastern populations, filling a major gap in international genomic projects. The researchers found 4.8 million previously undiscovered genetic variants, which could hold medical relevance.
A McMaster University researcher suggests that understanding biochemical pathways controlling gene expression can unlock the secrets of 'missing heritability' in precision medicine. The study reveals how hidden variations in these pathways contribute to disease development, providing a new approach to personalized care.
Researchers at the University of Helsinki have identified short non-coding RNA molecules in human ova and embryos, shedding light on embryonic development. The study's findings may lead to improved infertility treatments and a deeper understanding of early miscarriages.
A study found that half of individuals who initially refused to receive secondary genomic findings changed their minds after receiving more detailed information. The research suggests that healthcare providers should give patients multiple opportunities to make and revise their choice.
Research suggests cats can help understand human genetic 'dark matter' and aid in precision medicine for genetic diseases like polycystic kidney disease. By studying the cat genome, scientists may uncover new insights into human genetics and develop more targeted treatments.
Researchers have identified a new force in DNA that shapes genomes, revealing how transcription indirectly impacts genome organization. This discovery may hold future implications for understanding genetic diseases and developmental disorders.
Researchers successfully recovered a human environmental genome from the BIII layer of the cave of Satsurblia, dated 25,000 years ago, without skeletal remains. The analysis revealed genetic similarities with nearby cave of Dzudzuana and confirmed extinct lineage contributions to present-day West-Eurasian populations.
Researchers at USC have discovered a better way to identify elusive DNA variants that affect cell functions and diseases. The new method uses computational biology tools to detect variations in repetitive DNA sequences, known as VNTRs, which govern gene expression.
An international team analysed genomes of over 2,500 humans from 26 populations to understand human adaptation to historical coronavirus outbreaks. They found signs of adaptation in 42 different human genes encoding viral interacting proteins (VIPs), which primarily active in the lungs and interact with coronaviruses.
Researchers compared hg19 and hg38 reference genomes using exome sequencing data from over 1,500 participants. They identified 206 genes with discordant variants, including those associated with Mendelian diseases and common disease phenotypes.
Scientists discovered that the genome is organized like a library system, with liquid parts accessible and solid-like islands storing unused information. This organization relies on physics of different states of matter, providing new insights into disease mechanisms and potential treatments.
Ben Ouagrham-Gormley is researching ethical issues related to human germline genome editing, a key aspect of China's global scientific strategy. The researcher will analyze data and conduct interviews with Chinese and U.S. scientists and government officials.
Researchers developed a strategy to capture 3D facial shape using sibling data, identifying novel links between facial traits and specific genetic locations. The study reveals 218 genetic loci associated with facial traits shared by siblings.
Ancient DNA analysis reveals that Bronze Age migrations changed burial practices and kinship structures in Italy. The study found that Steppe-related ancestry arrived in Central Italy around 3,600 years ago, while Northern Italy received it around 4,000 years ago.
A new bonobo genome assembly has been created with high accuracy, allowing for precise comparisons to other great apes and humans. The study reveals over 5,500 structural variants that distinguish the bonobo and chimpanzee lineages, providing insights into gene evolution and species divergence.
Researchers have sequenced high-quality genomes for 16 vertebrate species, revealing new avenues for increasing immune defenses against emerging diseases. The study also standardizes genome assembly quality metrics using novel algorithms, paving the way for thousands of future genome assemblies.
The study created a large-scale atlas of chromatin accessibility changes with the loss of individual enzymes, revealing how DNA is organized in cancer cells. Chromatin modifications are linked to diverse human traits and diseases, most notably cancer, where their loss results in global gene expression changes.
The Vertebrate Genome Project has reported first discoveries in reading the entire genome of every bird, mammal, lizard, fish, and other creatures with backbones. The project achieved near complete, high-quality genomes for 25 species, including the greater horseshoe bat, Canada lynx, platypus, and kākāpō parrot.
Researchers at Stanford University have developed a new technique to analyze the genomes of archaic humans, revealing key differences in gene expression that may lead to physical traits. The study found associations with the vocal tract and cerebellum, suggesting rapid evolution of these organs in modern humans.
A new project aims to catalog genetic variations to improve diagnosis and treatment of diseases. The Atlas of Variant Effects will focus on quantifying the functional impact of single nucleotide variants, primarily in protein-coding genes.
Studies on viral evolution reveal that beneficial mutations often occur at the expense of symptom severity, while genetic novelties can arise from noncoding DNA insertion. Additionally, viruses' codon usage is constrained by host machinery, with some exhibiting unique compositions, and their effects can persist after infection clearance.
Researchers at A*STAR's Genome Institute of Singapore have developed a novel CRISPR-based gene editor, CGBE, to treat genetic disorders. The CGBE gene editor enables precise changes to single-nucleotide mutations in the human genome.
Researchers are using Drosophila melanogaster fruit flies to explore genetic underpinnings of susceptibility to environmental toxicants and develop precision toxicology. The study aims to identify molecular key event biomarkers in non-mammalian models that predict adverse health outcomes.
Researchers analyzed ancient human DNA to understand the impact of tuberculosis on European populations. The study found that a specific variant of the TYK2 gene was associated with an increased risk of becoming ill after infection with Mycobacterium tuberculosis.
A team of genetics researchers found that evolutionary forces drive a gender imbalance in health conditions, with men being more vulnerable to physical and mental health issues. This imbalance is due to the human genome's favoring of different characteristics in males and females, making men more susceptible to various conditions.
Researchers have sequenced 64 full human genomes, capturing genetic diversity and enabling population-specific studies on genetic predispositions to human diseases. The new reference dataset reflects 25 different human populations and better captures genetic differences than previous composite genomes.
A new reference dataset reflects 64 assembled human genomes, capturing genetic differences across 25 populations from around the world. This comprehensive resource enables accurate study of genetic variants and their role in disease, paving the way for personalized medicine.
Researchers identify nearly 108,000 previously undetected structural variants and 278 SV hotspots in diverse human populations. The findings provide fundamental insights into the structure and variation of the human genome.
Researchers identified over 140,000 viral species in the human gut, with more than half never seen before. The discovery opens up new research avenues to understand how viruses living in the gut affect human health and disease.
Researchers used CRISPR-Cas9 technology to introduce Neanderthal NOVA1 gene variants into human stem cells, generating brain organoids with altered neurodevelopment. The results showed slower development and increased surface complexity in the organoids.
A new, more complete dog reference genome has been built using DNA sequencing and annotation techniques. The improved genome will aid in understanding the link between DNA and disease in dogs and their human counterparts.
Researchers used machine learning to generate high-quality synthetic human genomes without real human donors, addressing accessibility barriers in genomic research. The generated genomes mimic real human populations' complexities and can serve as proxies for underrepresented populations.
The Human Genome Project has enabled millions to access their personal genomic information, but diversity gaps persist in clinical trials. Experts call for increased Indigenous participation, open data sharing, and multidisciplinary approaches to address biases and develop polygenic risk scores for diverse communities.