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 University of Cologne discovered a way to improve DNA repair in body cells, making them resilient towards DNA damage. This can help prevent aging and cancer development, with potential applications for treating human patients.
Researchers identified over 1,000 genes with age-related methylation changes in human sperm. These changes are associated with increased offspring disease susceptibility for neurodevelopmental disorders. The study found no correlation between paternal BMI or semen quality and age-related methylation changes.
Researchers developed HIV-1-infection models in human microglia cell cultures to investigate the insertion of the HIV-1 genome. They discovered a correlation between a cellular chromatin factor and the sleeping virus phenotype, linking viral integration to topologically associated domains.
Dr. Nara Sobreira has developed innovative tools like GeneMatcher and VariantMatcher to aid in rare disease diagnosis, earning her the 2023 Watson Genetic Medicine Innovation Award. She continues to work on expanding genome analysis accessibility through education and research initiatives.
Researchers used UK Biobank image and genomic data to uncover insights into rare retinal dystrophies, a leading cause of blindness in working-age adults. The study identified new genetic associations with the thickness of photoreceptor cell layers, offering new avenues for research and diagnosis.
A new study led by OHSU researchers reveals that gene editing technology in human embryos can lead to unintended changes in the genome and may not accurately reflect gene edits. The study highlights the need for caution when using genetically edited embryos to establish pregnancies.
A genomic study of 180 indigenous Africans provides new insights into human history, biology, and population diversity. The research sheds light on the origin of modern humans, African population history, and local adaptation, including traits such as skin color, heart development, and immunity.
Researchers analyzed ancient DNA from Cueva del Malalmuerzo in southern Spain, uncovering the oldest known human genome from this region. The study found a direct genetic link between the new genome and earlier populations in Belgium and beyond, shedding light on the Iberian Peninsula's role as an Ice Age refuge.
The study of 356 prehistoric hunter-gatherers from across Eurasia sheds light on the movements and genetic replacements of ancient populations. Genetic analysis reveals that populations in western Europe took shelter during the Last Glacial Maximum, while those in central and southern Europe died out or replaced with new gene pools.
Researchers estimate transcription error rates in human cells and identify genetic and epigenetic factors responsible for inaccuracies. Inaccurate transcription produces truncated or altered proteins, leading to disease.
Researchers found that severe herpesvirus infections can strongly activate host cellular immunity, leading to a therapeutic effect on refractory adult T-cell leukemia/lymphoma. This activation may play an important role in the survival of patients with this intractable disease.
A recent study by the University at Buffalo has discovered that genetic variations affecting immunity and metabolism have been preserved in humans for millions of years. This finding supports the theory of balancing selection, which suggests that certain genetic traits can be beneficial or harmful depending on environmental conditions.
A new genomic study found signs of TB adaptation in ancient Andean populations, thousands of years before European contact. The study suggests that Indigenous people in present-day Ecuador developed an immune response to tuberculosis around 3,000 years ago, when agriculture began proliferating in the region.
Scientists have successfully corrected limb length in a mouse model of FZD2-associated autosomal dominant Robinow Syndrome, a genetic disorder that affects skeletal growth and development. The treatment involves using a drug that stimulates the signalling pathway, resulting in significantly longer limbs than untreated mice.
A study published in PLOS ONE found that common microbiome analysis techniques can yield erroneous results due to incomplete DNA databases. The researchers used computer simulations to test the consistency of current methods, showing that a large number of detected species are not actually present in the community.
Researchers at KAUST have discovered the molecular mechanisms of DNA repair by studying the interaction between two enzymes, Lig1 and PCNA. Lig1 seals nicks in DNA by attaching to a ring-shaped protein called PCNA, which dislodges another enzyme FEN1 to prepare for sealing.
A recent study found that genomic testing can identify genetic causes of childhood hearing loss and provide critical information on its clinical characteristics. The researchers detected variants responsible for hearing loss in 43 different genes, and the severity of hearing loss varied by gene.
Researchers discovered poly(A)-tail-mediated remodeling of maternal mRNA during the oocyte-to-embryo transition, involving partial degradation and re-polyadenylation. This process is essential for human embryo development, as blocked re-polyadenylation leads to failed first embryo cleavage.
Researchers analyzed the genomes of over 2,800 individuals in Europe to study the evolution of immune system genes. They found that mutations advantageous for defending against pathogens increased in frequency after the Bronze Age, while those increasing disease risk fell.
Researchers found that many changes to human DNA had opposing effects, with some variants making enhancers stronger while others made them weaker. This discovery has implications for understanding human evolution and the potential link between human DNA variations and psychiatric diseases.
Researchers analyzed ancient genomes from ten individuals up to 7,500 years old in Siberia, revealing a previously unknown hunter-gatherer population that contributed to many contemporaneous and subsequent populations across North Asia. The genetic data show a mix of paleo-Siberian and Ancient North Eurasian people, with links to hunte...
A study by Rockefeller University scientists found that older male fruit flies are more likely to pass mutations onto their offspring due to less efficient mutation repair mechanisms. This could have implications for inherited-disease risk in humans.
A team of scientists identified 155 new genes that spontaneously arose from tiny sections of the human DNA, some associated with growth defects, muscular dystrophy, and other diseases. These 'microgenes' also play a role in maintaining healthy heart tissue.
Researchers have discovered physical forces and hydrodynamic flows that ensure proper functioning of life's blueprint. The study provides insights into the genome's organization and function, shedding light on its biophysical origins. This knowledge is crucial for understanding genetic disorders and human diseases.
G-Quadruplex DNA structures play a crucial role in regulating genes and cell processes, but their visualization is challenging due to the dynamic nature of double standard DNA. Fluorescence-active small molecule probes have emerged as a real-time visualization method, enabling researchers to detect G-quadruplexes with high selectivity.
A recent study found that Denisovan DNA sequences near immune-related genes in modern Papuans regulate their activity, affecting how people respond to infections. The research suggests that Denisovan DNA contributed to the adaptation of early modern humans living in New Guinea and nearby islands.
Researchers used WGS data of 10,585 people from China to construct the first blood virological profile of the Chinese population. The study identified 14 viruses widely present in the population, including hepatitis B virus, which was detected in 1.69% of individuals.
Researchers uncovered distinct DNA methylation profiles in ocean microbes, shedding light on population dynamics and interactions. The study's findings have significant implications for understanding pathogenicity and developing new approaches to monitoring environmental health.
Researchers from Trinity College Dublin analyzed ancient DNA from two men with multiple osteochondromas, a rare genetic disease, and identified new mutations in the EXT1 gene. This study is the first to discover a new disease mutation in ancient genomic data.
Researchers found shared genetic factors that contribute to severe COVID-19 risk and blood analyte levels. High triglyceride levels were strongly linked to increased risk of severe disease, supporting the use of lipid-lowering drugs against severe COVID-19.
Researchers at the National Institutes of Health (NIH) have identified a pattern of gene activity in individuals with attention deficit hyperactivity disorder (ADHD), finding that genomic differences affect the expression of genes coding for neurotransmitters. The study, published in Molecular Psychiatry, provides new insights into the...
A new guideline aims to standardize human genomic sequencing research in Canada by establishing essential core consent elements. This will enable researchers to collect patient data in a consistent manner, ensuring transparency for participants and streamlining the review process.
Researchers developed STAARpipeline to analyze rare genetic variants, enabling comprehensive analysis of noncoding variants. The tool found significant associations in gene-centric and non-gene-centric analyses, advancing genetic research.
Two new discoveries led by Cedars-Sinai Cancer investigators improve understanding of ovarian cancer's development and suggest personalized therapeutic approaches. They identified four new genetic regions linked to increased ovarian cancer risk and found that some tumors may develop resistance to chemotherapy from an early stage.
Researchers found that ancient viral DNA in the human genome can act as antivirals, protecting human cells against certain viruses. The study, published in Science, provides proof of principle for this effect and reveals a potential genome defense system.
Researchers found that endogenous retrovirus RNA is present in all non-diseased tissue types, including cerebellum and thyroid tissues. This discovery has important clinical implications for the use of HML-2 expression as a cancer biomarker or therapeutic target.
A new genome imaging technique captures the structure of the human genome at unprecedented resolution, revealing how individual genes fold and work. This technique, called Modeling immuno-OligoSTORM (MiOS), combines high-resolution microscopy and advanced computational modeling to provide a detailed picture of gene shape and function.
The Global Biobank Meta-analysis Initiative has made significant advancements in expanding genome-wide association studies (GWASs) to include more diverse and representative data from around the world. By analyzing genomic data from over 2 million individuals across four continents, researchers have identified new genetic variants asso...
Researchers at the University of Bern identified new targets for drug development in non-small cell lung cancer, a largely incurable type of cancer. The study focused on long noncoding RNAs, which were found to play a crucial role in NSCLC cell division and tumor growth.
Researchers aim to create a unified database network for battery data, facilitating AI analysis and predictions. The Battery Data Genome will collect data across the entire battery lifecycle, from discovery to deployment, with uniform standards for metadata.
Researchers at IMBA found that Kipferl helps distribute Rhino to piRNA clusters, avoiding sequestration to Satellite arrays. This control mechanism ensures the effective silencing of jumping genes and maintains genome stability.
The NIH's MorPhiC program aims to systematically investigate the function of every human gene, focusing on protein-coding genes. By using cell culture models and null alleles, researchers will develop a catalog of molecular and cellular consequences of gene inactivation, shedding light on vital biological roles and disease mechanisms.
A new computer program, ExtRaINSIGHT, has been developed to track harmful mutations in the human genome throughout evolution. The study found three regions of the genome that are extremely sensitive to mutations, including splice sites, miRNA molecules, and central nervous system genes.
Research institutes from Finland, Germany, Norway, Spain, and Sweden have launched the Federated European Genome-phenome Archive (Federated EGA) to improve data sharing across national borders. The new platform enables secure access to sensitive human data for research while respecting national data protection regulations.
Researchers found that over 60% of investigated microbial species matched their human host's evolutionary history, indicating a co-evolutionary relationship spanning ~100,000 years. This discovery fundamentally changes how the human gut microbiome is viewed and opens up new possibilities for population-specific therapies.
The NIH will fund a program to establish partnerships between universities and allow undergraduate students from diverse backgrounds to conduct genomics research and receive career development training. The goal is to strengthen the pathway for undergraduate students to pursue graduate education in genomics.
Researchers at CSU found that a gene called MSH1 helps keep plant mitochondrial genomes mutation-free, allowing for quick sorting of normal and diseased DNA. This process is more efficient in plants than in humans, where mutations are passed down through generations.
A study found that genetically unrelated individuals with extreme facial similarities share common genetic variants, but differ in epigenetic and microbiome landscapes. The results suggest a molecular basis for human resemblance, with potential implications in forensics and biomedicine.
Researchers identify LINE-1 RNA as a key player in premature aging, revealing its role in progeria and potential therapeutic targets. By inhibiting LINE-1 RNA, scientists reverse signs of aging and extend lifespan in mice.
Researchers analyzed genomic data from 44 women with germline PTEN mutations who developed breast cancer and compared it to sporadic breast cancers. They found that PTEN and PIK3CA were the most frequently somatically mutated genes in PHTS-associated breast cancers, indicating that somatic mutations in PTEN drive these cancers.
A VA study found nearly identical genetic variations contributing to coronary heart disease risk across major racial and ethnic backgrounds. The findings suggest that other factors like access to healthcare contribute to higher heart disease rates in certain populations.
The Gerlich Group at IMBA found that histone acetylation establishes a sharp surface boundary on chromosomes, resisting microtubule perforation. Chromatin phase separation and DNA looping by condensin cooperates to build mitotic chromosomes with unique physical properties.
The study proposes a new statistical method to analyse population admixture, enabling more accurate determination of migration wave timing. The authors applied this method to Colombians and Mexicans, revealing two episodes of admixture in different time periods.
Scientists analyzed DNA sequence data from nearly 71,000 people worldwide and identified mutations in ACE2 and TMPRSS2 genes that affect protein expression, influencing COVID-19 susceptibility and severity. The study suggests a potential new diagnostic method based on host cell variation rather than the evolving virus.
A new blockchain model proposes to give Indigenous governments control over how genomic data are used, prioritizing community priorities and respecting Indigenous Nations' rules and regulations. This framework aims to prevent the misuse of genomic data and reinforce stereotypes.
Researchers used deactivated Cas9 proteins to target key segments of the human genome and synthetically trigger gene transcription. The study revealed that enhancers can send messages in both directions, but with a predominant regulatory mode where an enhancer tracks toward corresponding promoters.
A new study suggests that a unique gene variant supporting cognitive health in older humans may have first emerged to protect against infectious pathogens like gonorrhea. This variant, linked to CD33, allows brain immune cells to break down damaged brain cells and amyloid plaques associated with Alzheimer's disease.
Researchers sequenced ancient human fossils from southern China, revealing a link to the East Asian ancestry of Native Americans. The findings propose that some southern East Asia people migrated north and crossed the Bering Strait to become the first people to arrive in the New World.
Researchers have identified over 7,200 unrecognized gene segments that potentially code for new proteins in humans. This discovery could revolutionize our understanding of the human genome and offer insights into human-specific proteins.
Researchers created a detailed map of how immune genes function together, shedding light on the basic drivers of immune cell function and immune diseases. The study found interconnected regulatory networks that can help explain why mutations in different genes lead to the same disease or how drugs impact multiple immune proteins.