Articles tagged with Genome Sequencing
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.
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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.
A research team has developed a method using modified CRISPR to find gene activators associated with autoimmune disorders. By targeting specific regions of the genome, they identified fundamental circuitry of diseases such as inflammatory bowel disease and Crohn's disease, providing new insights into their mechanisms.
Researchers at Royal Botanic Gardens Kew detail for the first time the opportunities for plant sciences with portable real-time DNA sequencing. By sequencing random pieces of the genome in the field, accurate species identification is possible within a few hours of collecting a specimen.
Scientists have established minimum metadata requirements for single-cell genomics and metagenome-assembled genomes, enabling researchers to compare analyses and assess genome quality. The proposed categories include Low-Quality Drafts, Medium-Quality Drafts, High-Quality Drafts, and Finished Quality.
Researchers used a portable DNA sequencer to track the movement of the Zika virus, understanding its evolution and predicting future outbreaks. The study analyzed 254 whole genomes of the pathogen, revealing that Zika circulated silently in all regions of the Americas at least a year before the first confirmed cases.
A team of scientists used whole genome sequencing to identify the cause of a respiratory disease that affected almost 77,000 native Icelandic horses in 2010. The researchers found that the gram-positive bacterium Streptococcus zooepidemicus was the culprit behind the outbreak.
Tardigrades' DNA shows no evidence of extraordinary survival means, contradicting previous ideas. The genomes provide insight into their close relationship with nematodes and potential applications in biotechnology.
The Porphyra genome revealed insights into its survival in extreme environments, including ultraviolet protection and thermal tolerance. The research also found a reduced cytoskeleton and unique signaling molecules that contribute to the species' small stature.
The sequencing of Porphyra's genome revealed minimal structural elements in its cellular cytoskeletons, allowing it to thrive in extreme environments. The analysis also uncovered genes for UV protection and compounds that enable the organism to withstand desiccation.
The sand rat genome shows a highly divergent GC-rich genomic domain with several essential genes, including the insulin-regulating homeobox gene Pdx1. This region is subject to elevated mutation rates, which could influence evolution and the course of diabetes.
Scientists at the University of Texas at Austin have developed a technique that can spot editing mistakes made by CRISPR, allowing for more precise gene therapies. The method involves rapidly testing a CRISPR molecule across a person's entire genome to foresee potential interactions.
Researchers at Rutgers University have invented a technology to clone thousands of genes simultaneously, creating massive libraries of proteins from DNA samples. This innovation could lead to rapid discovery of new medicines and biomarkers, revolutionizing the field of functional genomics.
A pilot randomized trial found that about 22% of generally healthy adult patients with whole genome sequencing results had a previously unrecognized variant with potential risk for a rare Mendelian disease. However, only about 4% had a clinically relevant abnormality related to a variant.
Researchers at TUM and Helmholtz Zentrum München developed a method that significantly increases the chances of identifying genetic triggers in rare hereditary disorders. By sequencing both DNA and RNA, they were able to narrow down gene candidates in 10% of cases, while reducing false positives.
A group of scientists found that parasitic nematode species can thrive without sex by using large, duplicated genomes. These genomes provide a reservoir for adaptation to different environments and plant hosts, giving the nematodes an evolutionary advantage over their sexual relatives.
A global standard method for whole genome sequencing will facilitate real-time data sharing among public health laboratory networks, increasing efficiency in detecting and responding to foodborne illnesses. The adoption of this method is expected to save lives and reduce economic burdens.
A new software tool called Mendel,MD can help doctors analyze patients' genetic data to diagnose diseases caused by mutations. Developed for easy use by physicians, the tool is freely available and has been validated using clinical cases and tests at multiple research centers.
Researchers have discovered a new complex of enzymes in herbivore gut fungi that can break down plant biomass into sugars, offering potential for sustainable fuels and chemicals. The unique structure of these enzymes, called cellulosomes, has the potential to be engineered for industrial use, reducing the need for current enzyme mixtures.
Researchers identified mutations in the KDSR gene, which disrupts ceramide production, leading to dry, scaly skin. Isotretinoin, a commonly used acne medication, counteracts this effect, allowing patients to produce ceramides and alleviate symptoms.
A new study found that CRISPR-Cas9 gene editing can cause hundreds of unintended mutations, including single nucleotide changes and deletions in non-coding regions. The researchers emphasize the importance of using whole genome sequencing to detect off-target effects and encourage others to use this method for safer editing.
Scientists have discovered a genetic variant that enables the Mylopotamos Greek population to live long and healthy lives despite consuming an animal-rich diet. The variant, rs145556679, is associated with lower levels of 'bad' natural fats and cholesterol, reducing the risk of cardiovascular disease.
Researchers from Boyce Thompson Institute have sequenced the spinach genome and identified genetic changes due to domestication, revealing potential for improved disease-resistance and higher yield. The study provides valuable information for breeding spinach with better quality and bolting resistance.
Researchers analyzed 174 Zika virus genomes from patient and mosquito samples to reconstruct the virus's spread across South and Central America. The study suggests that Zika was circulating in Brazil around February 2014, months before local cases were detected.
Researchers used genome sequencing to track Zika virus spread across Brazil, discovering it was present a year before first confirmed cases. The study's findings have significant public health implications and could improve responses to future outbreaks.
A research team has assembled the first complete genome of a deep-sea mussel, providing new insights into its molecular mechanisms of adaptation. The study found that modern deep-sea mussels evolved from shallow-water mussels approximately 110 million years ago.
Researchers have mapped the genome of C. zofingiensis, a green alga that produces astaxanthin, an antioxidant with potential health benefits. The study reveals critical genes and enzymes for producing astaxanthin, which could lead to advances in biofuels and medicine.
A new genomic analysis reveals the bladderwort plant retained and enhanced genes related to its carnivorous nature despite evolutionary pressure. The study identifies genes facilitating prey trapping, digestion, and protein transport, which are highly active in the plant's vacuum traps.
The National Institute on Aging has renewed Penn Medicine's Alzheimer's disease genetics data repository, providing $7.7 million in funding over five years. The site gathers and organizes genetic data to aid researchers in understanding the disease's origins and potential prevention and cure strategies.
Scientists at MU used whole genome sequencing to identify genetic variants causing rare diseases like progressive retinal atrophy and Niemann-Pick type 1 in domestic cats. This helps feline preservationists implement breeding strategies for endangered species.
A recent study utilizing genomic big data analyzed the silver birch genome, uncovering population bottlenecks and speciation events that shaped the species' current form. The research also identified genes under natural selection, which have contributed to birch's cold tolerance and rapid growth.
The genome of Botryococcus braunii has been sequenced, revealing 18,500 genes and potential biosynthetic pathways for hydrocarbon production. The findings could enable the use of algae as a renewable fuel source without modifying existing infrastructure.
A new study sequencing 80 silver birch genomes reveals genetic mutations influencing tree growth, wood production, and environmental adaptations. These findings hold potential for breeding trees better suited to various industries and climates.
Researchers have identified a new major gene expression regulator in fungi, which is preferentially deposited based on gene function and conservation. The discovery was made using DNA sequencing data from 16 fungal genomes, revealing high levels of DNA base modifications, including the methyl group addition to adenine (6mA).
The tea tree genome contains diverse genes that produce antioxidants and caffeine, contributing to its rich flavors. Researchers have successfully sequenced the genome, which is four times larger than the coffee plant genome and contains multiple copies of disease-resistant genes.
Researchers sequenced the genome of 13 ancient Scythian stallions and 1 mare, uncovering diversity in coat coloration patterns and genetic traits valued by breeders. The study suggests that Scythian breeders maintained natural herd structures and selected horses with robust morphologies.
A study of 27 Tibetan genomes found variants of five genes that help Tibetans survive at high altitudes. The genes are related to oxygen levels, vitamin D metabolism, and other physiological responses to extreme conditions.
A team of international researchers has found that a 80-year-old 'viable' anthrax strain was, in reality, a much younger standard laboratory strain due to contamination. Advanced genomic sequencing technology enabled precise tracking of bacterial strains used in biological warfare and terrorist attacks.
A team of scientists has developed an algorithm called PhenomeNET Variant Predictor (PVP) that can identify genetic changes in patients with genetic disorders. PVP uses data from non-human model organisms and a large database of gene-to-phenotype associations to prioritize variants with their likelihood of involvement in human disease.
A wild-born dingo named Sandy Maliki won the World's Most Interesting Genome competition with 41% of international votes. The UNSW-led project aims to sequence Sandy's genome and uncover genes related to temperament and behavior, shedding light on the transition from wild animals to domestic pets.
An international effort analyzed 1,610 Ebola virus genomes from the 2013-2016 West African epidemic, revealing insights into factors that sped or slowed the outbreak. The study found that cities played a major role in the magnitude of the epidemic and that distance between cities was key to sparing nearby regions from severe epidemics.
Researchers have unlocked genetic information about lettuce and related plants, releasing the first comprehensive genome assembly for lettuce and the Compositae family. The study found that triplicate genes may explain the success of this huge plant family.
A team of researchers used computational modeling to understand DNA knotting in nanochannels, a challenge in genome mapping. They found that experimental results are not consistent with simulations, but the data may come from other sources.
A new group of giant viruses, dubbed Klosneuviruses, has been discovered with a more complete set of translation machinery genes than any other virus known to date. These viruses are thought to have evolved from smaller viruses and encode proteins involved in protein biosynthesis, expanding our understanding of viral evolution.
A research team led by Professor Bernard Degnan and Associate Professor Sandie Degnan has discovered that crown-of-thorns starfish gather in large groups due to pheromone release. The team plans to use this knowledge to develop environmentally safe baits to capture the pests, making it easier to protect coral reefs.
Scientists from OIST and Australia have sequenced the COTS genome, revealing identical genetic material between Great Barrier Reef and Okinawa populations. The study identified water-borne molecules used by COTS for communication, which could be targeted to disrupt destructive spawning events.
Researchers sequenced the genome of Xerophyta viscosa, a 'resurrection plant', to understand its ability to tolerate severe drought. The study revealed key genes that enable plants to survive desiccation and opens up new areas of exploration for developing drought-tolerant crops.
New technologies enable basic scientists to build upon clinical genomicist work, promoting a virtuous cycle of bench-to-bedside collaboration. The researchers' recommendations prioritize data sharing, clinically relevant genes, and better data-management practices.
The study found extensive variation among Burkholderia cenocepacia isolates from cystic fibrosis patients, with changes in clinically relevant bacterial phenotypes. Genetic determinants of motility and biofilm formation may be promising targets for anti-virulence drugs.
Researchers at Johns Hopkins Medicine have designed a fully synthetic yeast genome, dubbed Sc2.0, which is smaller and more customizable than the natural yeast genome. The artificial genome allows scientists to study genetic questions that are difficult to answer with natural yeast, enabling new discoveries in biotechnology.
A team of international researchers analyzed dental plaque from four Neandertals, revealing a complex picture of their behavior, diet, and evolutionary history. The study found that Neandertals had a good knowledge of medicinal plants and used them to self-medicate, including the use of poplar trees for pain relief.
The study identified 61 genetic variations that affect autism risk, including copy number variations and chromosomal abnormalities. Many of these variations were found in areas of the genome once considered 'junk DNA,' suggesting a crucial role in controlling gene activity during brain development.
The study sequenced 10 novel Aspergillus species, more than doubling the number of sequenced species, revealing greater genomic and functional diversity. This increased understanding will aid in developing enzymes for biofuels, paper, textiles, food, feed, and pharmaceuticals.
Researchers at Hiroshima University developed a smart genetic reference library to determine disease-causing mutations in populations. The technique and database estimated naturally occurring rare-variants in the STAT1 gene and determined associated diseases. This will assist doctors in diagnosing primary-immunodeficiency in patients, ...
Researchers compared the genomes of a 45,000-year-old mainland mammoth with one from Wrangel Island, which had only 300 animals. The analysis revealed an excess of genetic defects, including loss of olfactory receptors and urinary proteins. This study provides insights into the effects of small population sizes on genome deterioration.
The genome of the parasitic mite Tropilaelaps mercedesae has been sequenced to better understand its interaction with honey bees and develop effective control strategies. The study revealed specific features in the mite genome shaped by its parasitic life history, highlighting the need for new targets in controlling the mites.
Researchers sequenced three Symbiodinium gene sequences to show their genomes have features promoting a prosperous symbiosis with corals. The study reveals that Symbiodinium has evolved bicarbonate and ammonium transporters to harvest essential nutrients for photosynthesis and growth.
Researchers have developed a new method of genetic engineering that creates artificial restriction enzymes with enhanced sequence specificity and defined sticky ends. This technology has the potential to revolutionize genomic research and gene editing by improving precision and reducing obstacles posed by existing restriction enzymes.
Researchers have identified plausible gene variants that predispose some children to developing Kawasaki disease, a common acquired heart disease in children. A variation of the toll-like receptor 6 gene and another variant in tumor-associated calcium signal transducer 2 were linked to the pro-inflammatory state during KD's acute stage.
Researchers at KAUST have sequenced quinoa's genome, providing insights into its traits and growth mechanisms. The high-quality sequence is expected to aid in breeding quinoa plants with desirable characteristics, such as seed taste and plant stability.
The Lomonosov Moscow State University has created an electronic depositary of living systems, featuring a unique information system with data on biological samples from various origins. The system allows for managing and sharing information about biomaterial, including descriptions of organisms and techniques for operating with them.
The National Institutes of Health plans to expand its ENCODE Project, a genomics resource used by many scientists to study human health and disease. With additional funding, NHGRI will strengthen the foundation of high-quality data, tools, and analyses for research projects on genome sequences and gene regulation.