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.
Two new research papers on scabies and tapeworms showcase a collaboration with protocols.io to share scientific methods, improving reproducibility. The articles provide detailed and complete methodology descriptions, enabling researchers to easily access and build upon the studies.
The study retrieved the complete sequence of a fossil's mitogenome, confirming its Eurasian origin and supporting a Palaeolithic back-migration to Africa. This migration suggests that some populations embarked on a journey from Eurasia to Africa around 40,000 years ago.
The OU Center will examine knowledge and attitudes about genomics in Native American communities and health care systems. The project aims to advance dialogues on genomics in society through deliberation and education.
Researchers have developed a method called 'LIGR-Seq' to explore the functions of non-coding RNAs in human cells. The study revealed new roles for small nucleolar RNAs in regulating protein-coding mRNA stability and abundance.
The NIH will fund four new research projects exploring the use of genomic information in infectious disease prevention and treatment, as well as its impact on privacy and communication. The projects will also examine genomics' effects on American Indian and Alaskan Native communities.
Researchers identified two existing compounds effective against the Chikungunya virus in an animal model, bringing a potential treatment within reach. The findings also suggest that these compounds may be useful for broadly acting antivirals against emerging viruses.
Researchers created cell lines with targeted chromosomal deletions to study the role of specific chromosomal losses in cancer development. The findings suggest that chromosomal engineering is a more effective approach than studying individual genes or micro-RNAs.
A large-scale international study has identified three genetic variants associated with happiness and two variants linked to depression. The findings provide new insights into the genetic basis of neuroticism and the interplay between nature and nurture in shaping human happiness.
Researchers found increased mutations at gene promoter sites are caused by a compromised nucleotide excision repair system. This highlights the need for further research into gene promoter mutations and their role in cancer development.
Researchers found thousands of APOBEC-induced, clustered mutations in hominid genomes, leading to accelerated evolutionary changes. These mutations were predominantly in transcriptionally active regions and resulted in amino acid substitutions.
A new study led by Stanford researchers suggests that Neanderthal Y-chromosome genes disappeared from the human genome long ago. The study found no evidence of Neanderthal DNA in human males, but discovered several genes on the Y chromosome that differ from those in humans and may have played a role in barriers to gene flow.
A new approach to sequence and assemble primate genomes has been developed using longer sequence reads. This technology has enabled the discovery of missing genes and genetic variation in Western lowland gorillas, providing new biological insights into a living species closely related to humans.
Researchers discovered 19 new non-human DNA sequences from ancient viruses, one containing a complete viral genome, found in 50 out of 2,500 human genomes. The study sheds light on how humans and viruses have evolved together over time.
Researchers at The Hebrew University of Jerusalem have successfully generated a new type of embryonic stem cell carrying a single copy of the human genome. These haploid stem cells are pluripotent and retain a single set of chromosomes, offering a powerful tool for genetic analysis and potential therapies for diseases.
The Spotted Gar genome is a small and manageable genome that has conserved its genetic material over time, making it an out-group for evolutionary studies. The study reveals the conservation of key genes involved in enamel formation, providing clues to the evolutionary history of gene families and their role in human complex diseases.
A genome sequencing project has identified the spotted gar as a genetically sound bridge between zebrafish and humans, enabling advancements in biomedical research on human diseases. The gar's genome retains ancestral characteristics lost by other fishes or humans, making it an evolutionary repository of ancient genetic materials.
Researchers discovered that disruptions in chromosomal looping structures can activate oncogenes fueling aggressive tumor growth. These findings reveal the powerful influence of genome structure on human health and disease, offering new insights into cancer diagnostics and treatment protocols.
The study confirmed the role of known genes, ruled out others and identified a new gene associated with strokes caused by large artery atherosclerosis. The research found that each identified gene is associated with a specific stroke subtype, suggesting a need for subtype-specific risk factor investigation.
Researchers at UC San Diego School of Medicine have discovered a crucial HIV RNA modification called m6A that influences viral replication. Silencing the enzyme adding or removing m6A from RNA can increase or decrease HIV replication, offering new avenues for developing effective anti-HIV therapies.
Researchers found strong evidence of interbreeding between Neanderthals and modern humans, occurring tens of thousands of years earlier than previously thought. The team analyzed DNA from a specific Neanderthal individual, which showed human DNA, contradicting previous findings that dated such events to around 47,000-65,000 years ago.
Researchers have identified correlations between Neandertal-derived genes and disease states in modern humans, including depression, addiction, and metabolism. The study found that Neandertal alleles were significantly correlated with the risk for 12 traits, including myocardial infarction and blood disorders.
Researchers have sequenced the Ixodes scapularis tick genome, which supports redundancy and has implications for disrupting disease transmission. The large genome includes duplicative elements and hormones regulating development, suggesting potential for developing a 'birth-control pill' to eradicate ticks.
Researchers studying the Aka pygmies found that teaching is an innate aspect of human behavior, with adults giving infants sharp objects to learn a skill. The study's findings suggest that teaching occurs naturally in small-scale groups and may be essential for human learning.
The journal will publish evidence-based original research on the impact of biological sex on 21st century technology and human life. Topics include sex-specific differences in genomic and cellular function, synthetic biology, and technological advances.
A study of over 13,000 couples found that genetic variation affecting height influences mate choice, revealing an innate preference for partners of similar height. The research provides new insights into the mechanisms driving sexual attraction and human variation.
The National Institutes of Health has launched the Centers for Common Disease Genomics (CCDG) to explore the genomic contributions to common diseases such as heart disease and diabetes. The program will sequence tens of thousands of genomes from individuals with these diseases, aiming to identify genes and genomic variants underlying d...
New studies reveal that Neanderthal genes have increased the ability of modern humans to ward off infection, but may also contribute to allergies. The findings highlight the importance of interspecies relations in human evolution and specifically in the evolution of the innate immune system.
The new Illumina MethylationEPIC BeadChip array provides a powerful tool for elucidating the role of the human epigenome in complex diseases. With its significantly increased coverage in gene regulatory regions, it enables DNA methylation analysis at an unprecedented scale.
The CRISPR genome editing technique has been hailed as a breakthrough due to its ability to deliver genes precisely, low cost, and ease of use. It has enabled the creation of gene drives, human embryo editing, and the deletion of retrovirus DNA in pig genomes.
A streamlined PITCh system enables efficient genome editing for inserting foreign DNA into targeted genomic loci. This method can aid rapid research progress in fields like drug screening and human disease modeling.
Researchers at Arizona State University have created a worldwide resource to explore genes' deep and hidden messages, specifically the untranslated elements (UTRs) of the human genome. The UTRome library contains over 1,400 human 3'UTRs and is freely available for researchers to study gene regulation and disease.
Researchers used CRISPR/Cas9 to guide human pluripotent stem cells into becoming a lab model for polycystic kidney disease (PKD), a common inherited disorder. The system produced stable, biologically accurate human models with cyst-like structures in kidney tubules.
Researchers mapped the topological structure of the human genome, revealing how proteins like CTCF and cohesin organize genes for proper transcription. The findings provide new insights into the relationship between genome architecture and gene regulation, with potential implications for understanding genetic diseases.
Researchers at Whitehead Institute created a 3D map of the human genome's DNA loops that regulate gene expression in human embryonic stem cells and adult cells. This new understanding will help scientists predict relationships between mutated elements and their target genes, leading to improved disease development insights.
The study reveals that Yakutian horses developed their adaptations in less than 800 years, making it one of the fastest examples of adaptation in mammals. The genome analysis shows that the founders of modern Yakutian horses entered the region with Yakut horse-riders in the 13-15th century AD.
Researchers sequenced ancient genomes from Late Upper Palaeolithic period, revealing a new strand of European hunter-gatherer ancestry. The discovery provides insights into the genetic history of modern populations in Europe and beyond.
A recent study from Karolinska Institutet shows that the human genome's 'grammar' is more complex than even intricate spoken languages. The findings contribute to understanding how genetic differences affect disease risk and pave the way for cracking the genetic code controlling gene expression.
Researchers have identified a single gene, TLE6, responsible for human embryonic lethality at an earlier stage of development than previously documented. The mutation impairs the binding of components of the sub-cortical maternal complex, leading to arrest in early embryonic development.
The new center aims to understand how 3-D genome structure influences gene expression, cellular function, development, and disease. Researchers will generate three-dimensional models of the human genome using advanced technologies and imaging methods.
Genomic data sharing networks pose a risk to individual privacy if accessed by the wrong hands. Stanford researchers demonstrate a technique to prevent hacking and protect donors' identities.
Researchers developed an approach to predict human genome variation by compiling data from 46 vertebrate species and applying evolutionary probability analysis. The method predicts probable mutations and identifies evolutionarily improbable variations, which may be strong candidates for adaptive evolution.
A team of researchers has found that proteins forming loops in human chromosomes work like a sliding plastic adjuster on a backpack. This discovery could provide new clues about genetic diseases and allow for reprogramming cells by directly modifying the loops in genomes.
Scientists have identified a set of genes in the human genome essential for cellular survival and proliferation using CRISPR genome editing. The findings may lead to the discovery of new cancer drug targets and a better understanding of disease resistance.
Researchers have successfully used the CRISPR-Cas9 system to eliminate porcine endogenous retroviruses (PERVs) from pig epithelial cells. The study found that PERV infectivity was reduced by up to a thousand fold, making genetically modified pigs for human transplantation a promising option.
A new system is being developed to understand the three-dimensional structure of the human genome, which is intricately looped and packed into microscopic nuclei. The Nucleome Positioning System (NPS) will deliver complex interaction network maps that can provide insight into gene expression in normal development and disease.
A massive research project has revealed widespread structural variation in the human genome, including copy number variants and insertions/deletions of DNA segments. The findings underscore the significant role of these variations in determining gene expression and disease risk.
The 1000 Genomes Project has completed an unprecedented analysis of human genetic variation, providing a comprehensive resource for researchers. The project identified 136 candidates related to diseases, including cancer, and found a cluster of variants involved in successful pregnancy completion.
The 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, identifying over 88 million sites that vary among people. This database will help researchers understand how inherited genetic variations contribute to disease risk and drug response, enabling the development of improved dia...
Researchers found that humans and chimpanzees express different levels of proteins controlling facial development, including PAX3 and PAX7 genes affecting snout length and skin pigmentation. They also identified species-biased enhancer regions contributing to craniofacial differences.
Researchers analyzed copy number variation across 236 genomes from 125 populations to identify patterns of ancestry and genetic subpopulations. DNA deletions are more reflective of selection, while duplications highlight these variations.
Recent study finds that Mammalian-wide Interspersed Repeats (MIRs) serve as genetic landmarks to target regulatory mechanisms, coordinating gene expression in cells. Boundary elements, encoded by MIRs, help establish the geography of genome packaging, controlling timing and extent of gene expression.
Researchers have made significant progress in editing human T cells using CRISPR/Cas9, opening doors to potential therapies for autoimmune diseases, AIDS, and cancer. By disabling key proteins such as CXCR4 and PD-1, scientists hope to develop new treatments for various health problems.
Researchers at Harvard Medical School and Massachusetts General Hospital developed two new strategies to reduce off-target effects of CRISPR/Cas9 genome editing. These techniques use truncated guide RNA molecules and the addition of a FokI domain to the Cas9 protein, resulting in highly specific genome editing.
The National Academies have launched an international initiative to address the technical, social, and ethical issues surrounding human genome editing. The initiative aims to provide a comprehensive understanding of human genome editing and its implications for improving human health and boosting food production.
Singapore researchers have identified specific molecular interactions in the dengue virus genome that allow it to manipulate human immune defenses and spread more efficiently. These genetic changes increase the virus's capacity for epidemic outbreaks, highlighting the need for targeted surveillance and response strategies.
Researchers have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled the detection of complex forms of genomic variation, critically important for their association with human disease.
Researchers at MIT report that a widely held assumption about computational complexity is correct, making it unlikely that a more efficient algorithm exists. The current edit distance algorithm, in use for over 40 years, has been deemed the best possible solution for comparing genomes or strings of symbols.
Scientists detected a distinct accumulation of mutations at sites where CTCF and cohesin bind DNA, protecting these sites from mutations. The study's findings reveal new insights into the regulation of gene expression and chromatin structure in cancer.
A new study reveals that Egypt was the major gateway out of Africa, with migrants following a northern route. The analysis of 225 genomic sequences from Ethiopians and Egyptians provides crucial insights into early human evolution.
ClinGen aims to standardize genetic variant interpretation, resolving differences between labs and clinicians. The program uses ClinVar, a database of over 170,000 variant submissions, and has formed expert working groups to interpret gene-disease relationships and improve clinical decision-making.