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 developed novel Cas9 variants that eliminate the need for a protospacer adjacent motif (PAM), allowing for genome-wide targeting with unprecedented accuracy. These variants, SpG and SpRY, can correct mutations in previously 'un-editable' regions of the genome, expanding the potential of CRISPR-Cas systems.
A comprehensive analysis of 929 human genomes provides unprecedented detail of our genetic history, highlighting the complexity of human evolution and its impact on disease susceptibility. The study identifies millions of previously unknown DNA variations that may influence susceptibility to different diseases.
Researchers have created a new tool called CHyMErA that enables simultaneous editing of multiple genes and genomic fragments in the same cell. The method uses a combination of Cas9 and Cas12a enzymes to systematically target DNA at multiple positions, allowing for comprehensive analysis of gene cooperation and function.
Researchers identify over 4,500 novel transcripts in fruit fly genome that regulate networks of genes and contribute to genetic disorders. These findings shed light on the 'dark' portion of human genome, which accounts for 98% of its content.
A survey of over 2,000 Americans found that most respondents prefer a more transparent governance approach with control and compensation. The top factors increasing willingness to share data were policies allowing data deletion and specific permissions for re-use. Conversely, policies selling database access to pharmaceutical firms and...
Researchers discovered ancient Salmonella genomes in human skeletons dating back 6,500 years, shedding light on the evolution of a human pathogen. The study suggests that the Neolithic revolution facilitated the emergence of human-adapted pathogens, including Paratyphi C.
Researchers reconstructed eight ancient Salmonella enterica genomes from human remains, revealing a link between the spread of farming culture and the emergence of human-adapted pathogens. The study highlights how constant exposure to pathogens enabled their evolution over 6,500 years.
Researchers discovered genetic contributions from an unknown archaic hominin in modern West Africans through computer modeling. The study suggests recent or multiple interactions between anatomically modern humans and various populations of archaic hominins, hinting at a complex history.
The UCSC Genome Browser has made available the complete biomolecular code of the coronavirus, allowing researchers to study its genetic structure and potential targets for treatment. The browser's features enable zooming in and out of the genome, annotation, and collaboration tools for global research.
Researchers have discovered that modern Africans carry Neanderthal DNA, contradicting previous assumptions about the geographic isolation of Neanderthals and ancestral African populations. The study also sheds light on the origin of Neanderthal sequences in Africans, revealing a history of human migration and gene flow.
Researchers found that African genomes contain more Neanderthal sequences than previously reported, suggesting back-migration from European ancestors. The study also reveals surprisingly similar levels of Neanderthal ancestry in Europeans, East Asians, and South Asians.
Research highlights need for large-scale systematic study of exposome, combining environmental and internal factors, to understand effects of thousands of chemicals. Scientists aim to remove pollutants or develop green chemistry alternatives to protect human health and the environment.
The 'substantially human' concept proposes a legal boundary for living organisms with human characteristics. This approach would help courts, scientists, and physicians navigate emerging biotechnologies.
A novel parasitic gene in fruit flies is responsible for destroying eggs in ovaries, similar to human genomes filled with mobile parasitic genes called transposons. The discovery may lead to a better understanding of how human genomes are shaped by transposons and the small RNA molecules used to silence them.
Researchers have successfully extracted a complete ancient human genome from birch pitch used as 'chewing gum' 5,700 years ago. The findings reveal genetic information about an individual's physical characteristics, including dark skin, hair, and eyes, as well as their diet and oral microbiome.
Researchers at Clemson University's Center for Human Genetics have identified hundreds of metabolites that may serve as indicators for disease. The study found correlations between genetic variation, metabolite levels, and specific traits, such as stress resistance and aggression.
Japanese researchers have developed a Class 1 CRISPR gene editing system that enables efficient DNA repairs in human cells with minimal off-target effects. The Cas3 protein-based approach achieves superior genome editing efficiency compared to traditional Class 2 systems, opening doors for new therapeutic applications.
A team of scientists has identified the tools for repairing damaged DNA molecules, revealing new insights into how the human genome works. The study found that damaged DNA undergoes a unique packing state during repair, moving faster than healthy DNA but depending on its size.
Researchers discovered that a genetic mutation affecting neural crest cell behavior is linked to docility and facial features in modern humans. This study provides the first empirical validation of the self-domestication hypothesis, suggesting that human evolution led to changes in neural crest cells.
Researchers at Virginia Tech have developed a microfluidic technology to study diseases such as breast cancer and schizophrenia using low-input sequencing methods like MOWChIP-seq, allowing for the analysis of epigenomes in smaller cell numbers.
A new CRISPR approach called prime editing has been developed by combining two key proteins and a new RNA to make targeted insertions, deletions, and single-letter changes in human cells. The system expands the scope of gene editing with up to 89% precision and potential correction of disease-causing genetic variations.
A recent study reveals that modern Melanesians have inherited beneficial genetic variants from archaic Neanderthal and Denisovan hominins. These genes are associated with positive selection in the Melanesian genomes, particularly at chromosomes 16p11.2 and 8p21.3, suggesting an adaptive role in environmental adaptation.
A new peer-reviewed journal discusses human genome editing's pros and cons, including concerns over non-Mendelian conditions and governance. The CRISPR Journal special issue explores various topics, from germline editing to gene therapy, with recommendations for democratic governance.
Scientists have assembled a set of genetic sequences to improve the human reference genome, which better reflects global genetic diversity and provides more accurate interpretations of whole-genome sequencing data. The new resource benefits researchers studying diverse human populations and future sequencing studies.
Researchers sequenced genomes from 426 individuals across 13 African countries, revealing impressive genomic diversity and unique genetic variants among ethnolinguistic groups. The study sheds light on the impact of ancestral migration, cultural demography, and infectious disease on the human genome.
The University of Texas at Arlington researcher is using Daphnia, a freshwater microcrustacean, to study the genetic mechanisms of parthenogenesis and its implications for human reproductive health. The study aims to understand how environmental conditions affect the switch between sexual and asexual reproduction in these animals.
The CRISPR Journal publishes special issue on human genome editing ethics, exploring governance, moratoriums, and access. Experts argue for democratic governance and against imposing moratoriums, highlighting the need to regulate germline editing for safety and efficacy.
Researchers analyzed 34 ancient genomes from the Black Death and succeeding plague epidemics in Europe to understand the genetic history of Yersinia pestis. The study found a single strain ancestral to all second pandemic strains, with lower genomic diversity during the initial outbreak.
The National Human Genome Research Institute (NHGRI) has awarded $29.5 million over five years to fund two centers for advancing the human genome reference sequence. The centers will develop a multi-genome reference sequence representing 350 genomes, enabling researchers to find disease-causing variants with increased accuracy.
Researchers mapped the whole genomes of 1,000 Swedish individuals, identifying 61,000 new DNA sequences that affect over 80 genes. These new sequences are found in all human populations and suggest an ancient origin, updating our understanding of human genetic diversity.
The University of California, Santa Cruz, will lead a new Human Pangenome Reference Sequence Project funded by the NIH. The project aims to generate and maintain a completely new and comprehensive reference sequence of the human genome, vastly improving current representation of human diversity and genetic variation.
Researchers have developed a new CRISPR technology to accurately regulate and edit genomes in human cells, opening up nearly 90% of CRISPR-Cas systems. This approach has shown promise for biomedical research, gene therapies, and other applications.
Researchers have sequenced the genomes of corals and their microbial partners, revealing new insights into symbiotic relationships and nutrient sharing. The study aims to aid in the revival of threatened coral reefs by understanding how they interact with their environment.
The American Society of Human Genetics affirms the importance of shared genetic data in medical advancement. The Society's core principles prioritize individual confidentiality, robust protection measures, and balanced assessment of risks and benefits for participants and society.
Researchers have mapped a previously uncharted region of the human genome that gives rise to various diseases. Using advanced imaging techniques, they discovered extreme variability in DNA sequences between individuals and populations, which may lead to genetic testing for parents before having children.
The NIH Genomic Innovator Awards provide funding to six institutions to support early career researchers studying genome biology and its applications. The awards aim to accelerate genomics research and promote flexible and ambitious research projects.
Researchers discovered that albumin and ions in host cell vesicles trigger enterovirus genome release. The findings may provide new insights into understanding the fundamental aspects of enterovirus life cycle and developing targeted therapies.
Scientists studied how garfish regrow fins and found genes and mechanisms responsible for this process. These findings suggest that the last common ancestor of fish and tetrapods had a specialized response for appendage regeneration.
Researchers reconstruct 3D image of group II introns to uncover large-scale molecular movement associated with RNA catalysis. This discovery provides key insights into the evolutionary origins of RNA splicing and its impact on human disease.
Researchers have created a new technique called LADL that uses light to serve up on-demand genome folding, allowing for the manipulation of specific DNA loops on command. This technique combines CRISPR/Cas9 and optogenetics and has the potential to study the relationships between long-range loops and mechanisms determining gene express...
A new benchmarking study has determined the best analysis tools for identifying errors in a patient's DNA that are responsible for driving disease. GRIDSS was found to be one of the most accurate options, detecting DNA rearrangements with high precision.
Stylianos E. Antonarakis is awarded the William Allan Award for his life's work on understanding the human genome and its relation to complex disorders. He has made significant contributions to the genetic basis of Mendelian and complex genetic disease, chromosome 21 biology and Down syndrome.
Researchers confirm known genomic variants and identify a novel ZRANB3 gene linked to T2D susceptibility in sub-Saharan Africans. The study's findings also suggest the gene may influence T2D development in other populations.
Scientists at the University at Buffalo have successfully wirelessly controlled a key gene involved in human growth, opening up possibilities for new cancer treatments and mental disorder therapies. The study uses tiny photonic implants to manipulate FGFR1, a gene that plays a crucial role in human development.
Scientists from Israel and the US have discovered the genetic explanation for intractable diarrhea of infancy syndrome (IDIS), a rare inherited disease causing extreme diarrhea in children. The study found that deletions in a previously unstudied noncoding region on chromosome 16 prevent the expression of a nearby gene called Percc1.
The New York Genome Center has received a $1.5 million grant from the Chan Zuckerberg Initiative to develop a single-cell analysis toolkit. The project will leverage multimodal methods to identify disease-causing genes and extract more information at reduced cost.
Researchers found 27 new genomic variants linked to conditions like blood pressure, type II diabetes, and chronic kidney disease in diverse populations. The study aimed to understand how genomic variants influence disease risk in different ethnic groups.
Researchers at Baylor College of Medicine reanalyzed preexisting molecular data with new disease-causing genes and genetic knowledge, increasing the diagnostic rate nearly doubling it in one cohort. The computational pipeline facilitated semi-automated reanalysis, reducing labor intensity and cost.
Researchers have discovered big chunks of ancient Neanderthal and other ancient DNA in the dark centers of human chromosomes, which can be used to study chromosome behavior during cell division and evolutionary descent. The findings also suggest that certain centromere haplotypes may influence differences in sense of smell.
A Brazilian-US research team has sequenced the mitochondrial genome of the tube anemone Isarachnanthus nocturnus, revealing a massive 80,923 base pairs. The discovery challenges current classifications and sheds light on the evolution of cnidarians.
A new study identifies a 'midlife crisis' in human molecular aging, where key longevity programs cease functioning after 50 years. Researchers found that humans use the same biochemical pathways as short-lived animals but stop using them from about age 50.
Researchers analyzed human remains from 21 archaeological sites to study the impact and evolution of Yersinia pestis during the first plague pandemic. They reconstructed 8 new genomes from Britain, Germany, France, and Spain, revealing a previously unknown level of diversity in Y. pestis strains.
A gene mutation that became more common in humans after cooking and farming emerged as a potential adaptation to modern high-carb diets. The variant is associated with improved blood sugar regulation and may have helped ancient humans manage food scarcity.
Scientists have identified a unique fraction of the genome that can be used to predict epigenetic causes of disease. The 'treasure map' of correlated regions of systemic interindividual variation (CoRSIVs) comprises a previously unrecognized level of molecular individuality in humans, associated with diseases such as obesity and cancer.
Scientists have constructed the first complete map of the cultivated tomato's genetic makeup, revealing a wealth of new information on how to improve flavor. The discovery includes a rare gene variant that influences fruit flavor and a group of compounds contributing to its aroma.
Researchers found that KZFP proteins domesticate regulatory sequences in transposable elements, minimizing their impact on early embryonic development. This process allows for the incorporation of transposable element-based controlling sequences into transcriptional networks.
Researchers have characterized extensive structural variants in three family trios, uncovering 818,054 small insertions and deletions and 27,622 SVs per genome. Many of these variations are missed by routine sequencing technologies, revealing a vast genetic repertoire that can inform new disease associations and diagnostic methods.
A recent study in Molecular Biology and Evolution reconstructed artificial genomes with the analyses of 565 contemporary South Asian individuals to extract ancient DNA signals. The researchers found valuable genetic components that allow them to elucidate the genetic composition of ancient populations in the region. Additionally, they ...
The American Society of Human Genetics has issued a position statement outlining the responsibility to recontact research participants with new genetic findings. The statement recommends that researchers make reasonable attempts to recontact participants if the reinterpretation is expected to affect medical management, but not strongly...
Researchers say gene interactions are key to understanding disease risk and treatment response, but current methods lack statistical power to uncover multiple genes. Genome-wide association studies have identified thousands of mutations that contribute to disease, but environmental effects and genetic diversity complicate matters.