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.
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.
A team of researchers has comprehensively predicted the location of non-B DNA structures in great apes using newly available telomere-to-telomere genomes. The study suggests that non-B DNA is enriched in these segments and may play a role in genetic diseases and cancer, with potential new functions discovered.
A study published in the Journal of Medical Entomology found a gene mutation in bed bugs that may contribute to their resistance to insecticides. The researchers, led by Warren Booth, discovered the mutation in 134 unique populations of bed bugs collected from North America between 2008-22.
A new study describes a case where long-read genomic sequencing (LRS) was used to diagnose RFX3 haplo-insufficiency syndrome in a patient with autism spectrum disorder and intellectual disability. The study highlights the potential benefits of genetic testing in psychiatric care, including expediting workups for inpatient patients.
Researchers found two new types of gene clusters capable of producing large volumes of hydrogen in marine bacteria. The study suggests that the diversity in these clusters is related to speciation and ecological niches, with some species producing higher levels of hydrogen than others.
A new study deciphers ancient DNA from the Green Sahara, providing critical insights into the African Humid Period and its impact on human migration. The research reveals a unique genetic lineage that remained isolated for thousands of years, highlighting North Africa's heritage.
Scientists have developed genome sequences for five duckweed species, revealing genes behind the plant's unique traits and versatility. The research holds promise for commercial applications, including carbon capture technology and biofuel production.
Researchers discovered that a drug-resistant type of bacteria has adapted to produce antimicrobial genetic tools, eliminating its cousins and replacing them as the dominant strain. The finding validates a system developed at Pitt and UPMC for detecting infectious disease outbreaks.
A genomics blood test has improved diagnosis and treatment plans for children with rare diseases, including epilepsy. The test provides genetic diagnoses for 43% of children in under three weeks, leading to significant impacts on treatment.
Researchers at Johns Hopkins University have discovered genes that control fruit size in tomatoes and eggplants, opening up opportunities for new varieties and improved agriculture. The study could lead to the development of larger, more nutritious fruits, and has significant potential for global food security.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Researchers analyzed DNA of 370 individuals from 800 years, revealing genetic ties between Huns and Xiongnu Empire. The study found a small but distinct set of individuals carrying East Asian genetic signatures, suggesting some Hun-period individuals in Europe traced their lineage back to late Xiongnu burials.
A team of scientists has developed a cutting-edge technology to analyze bacterial sexually transmitted infections (STIs) using genome sequencing. The 'target enrichment' method enables high-resolution analysis of Chlamydia trachomatis and other pathogens, revealing new insights into their transmission and development pathways.
Researchers developed a powerful tool to detect SARS-CoV-2 variants with high transmission potential, pinpointing exact mutations driving spread. The model focuses on spike protein and other parts of the virus, enhancing ability to bind human cells and evade immune systems.
Scientists from Gladstone Institutes developed a new method called RASAM, which made a surprising discovery that large sections of newly formed DNA are hyperaccessible for many hours. This finding holds important implications for basic understanding of biology and the development of new medicines.
A new study explores how city life is influencing the evolution of urban coyotes, revealing genetic changes related to diet, health, thermoregulation, behavior, cognition, and reproduction. The research also highlights the challenges of studying urban coyotes, which are increasingly common in urban areas throughout the US.
Researchers have successfully used long reads to identify the genetic causes of rare diseases in 93% of cases, surpassing traditional short read techniques. The technique, which can map methylation and sequence longer DNA segments, has shown promising results in detecting complex genetic mutations.
Researchers have reconstructed the evolutionary origin of the complex configuration of multiple sex chromosomes in echidnas using their nearly gapless genome sequence. The high-quality data helped trace genetic events that led to this remarkable chromosomal arrangement, including chromosome fusion and fission events.
Researchers developed a new tool called SigRM to analyze single-cell epitranscriptomics data, enabling the study of RNA modifications in individual cells. This can provide valuable insights into gene regulation and its impact on health and disease, particularly in complex conditions like cancer.
A new whole-genome study challenges the long-held belief that Armenians are descendants of Phrygian settlers from the Balkans. Instead, researchers found a genetic input into the region from Neolithic Levantine farmers, suggesting a large-scale post-Early Bronze Age migration wave across the Middle East.
Two studies found that multidrug-resistant Enterobacterales, particularly Escherichia coli ST131 and Providencia stuartii NDM-1, are spreading in healthcare and community settings across Europe. The emergence of these resistant bacteria poses a significant threat to carbapenem treatment effectiveness.
The study reveals large genomic differences between European aurochs, North Asian aurochs, and South Asian ancestor, with evidence of human intentional feeding and targeted domestication. The genome of the central European aurochs was fully decoded for the first time, providing insights into the history of wild cattle in Europe and Asia.
Researchers from The University of Texas at Arlington are conducting a DNA analysis project to determine the genetic differences between the rare Dixon's whiptail and the common checkered whiptail. If the two species are found to be distinct, Dixon's whiptail may become eligible for endangered species protection.
A national study found that genomic sequencing can diagnose mitochondrial disease in over half of patients, simplifying the diagnostic journey and sparing invasive testing. The study also identified factors that impact testing results, particularly among children.
Researchers tracked the long-term dynamics of transplanted stem cells in patients' bodies up to three decades post-transplant. They found that younger donors produce more vital stem cells, while older donors experience reduced immunity and higher relapse risk. The study provides new insights into donor selection and transplant success.
A pioneering study shows that DNA analysis picks up many more preventable and treatable serious health conditions than standard newborn screening, improving children's medical care. Genome sequencing detects gene variants linked to hundreds of specific diseases, far exceeding the 60 disorders detected by current methods.
Researchers have successfully integrated genome sequencing into newborn screening to identify hundreds of rare genetic disorders. This approach allows for earlier diagnosis and treatment, promoting health equity and reducing time to diagnosis.
Research reveals two species of sardine in the California Current, with Japanese sardines arriving on the West Coast around 2022. The discovery highlights the impact of marine heatwaves and changing ocean conditions on fish distributions.
A new genomic study reveals high genetic diversity and low inbreeding in the endangered Oriental Stork population, a common finding in many critically endangered species. The study provides hope for the species' long-term survival and suggests that protecting its habitats could rapidly rescue this species from extinction.
Providencia rustigianii carries a type III secretion system and cytolethal distending toxin virulence gene, increasing its pathogenicity, similar to Salmonella.
The BICAN Rapid Release Inventory provides early access to single-cell transcriptomic and epigenomic profiles from humans and other mammalian species. This open data release aims to accelerate discoveries in neuroscience by facilitating collaboration and data reuse among researchers.
Researchers analyzed ancient genomes from the Oakhurst rock shelter in southern Africa, finding that the oldest genomes are genetically similar to San and Khoekhoe groups living today. The study reveals a long history of relative genetic stability until around 1,200 years ago when newcomers introduced new cultures and languages.
A new study from European universities has developed a method to analyze wastewater data from seven major cities, identifying thousands of disease-causing bacteria, viruses, and antimicrobial resistance. This approach can detect potential health threats simultaneously, potentially preventing epidemics from escalating into outbreaks.
The kākāpō evolved two color types to avoid detection by Haast's eagle and Eyles' harrier. Genome sequencing shows olive feather coloration emerged around 1.93 million years ago, coinciding with the evolution of these predators.
Scientists have successfully sequenced the genome of the spur-thighed tortoise, a threatened land turtle species, using a reference assembly method. The genome sequencing will enable conservation efforts and provide tools for protecting the species' populations.
Researchers discovered a non-virulent bacterium, Mycobacterium spongiae, that shares 80% of its genetic material with M. tuberculosis, shedding light on the disease's origins. The study provides valuable insights into the evolution and virulence of TB.
Researchers found a specific deletion in the spike protein that enhances the virus' ability to infect brains of mice, which could help understand 'long COVID' and develop treatments. The study suggests viruses with this deletion can traffic from the lung to the brain, leading to neurological symptoms.
A study sequenced the genomes of nearly 300 rabbits to understand their colonization success. Researchers found that domestication-linked genes are often eliminated in feral populations due to natural selection, leading to a mix of domestic and wild origin. This helps explain how domestic animals can thrive in the wild.
Researchers have created the first spatial map of malaria infection in the mouse liver using Spatial Transcriptomics and single-cell RNA-sequencing. This discovery sheds light on the parasite's lifecycle, revealing changes in host cell gene expression near infected areas.
Researchers have sequenced the lungfish genome, which is 90 billion bases long and breaks all records for size. The study reveals that autonomous transposons are responsible for the genomic expansion, but surprisingly, the genome remains stable despite its enormous size.
Researchers discover a gene drive system, Teosinte Pollen Drive (TPD), that enables the quick transfer of traits from teosinte to maize. This finding sheds light on corn's rapid adaptation to the highlands and has significant implications for agriculture.
A Cornell University study reveals efficient and sustained mammalian-to-mammalian transmission of highly pathogenic avian influenza H5N1 between cows and from cows to cats and a raccoon. The virus shows high tropism for the mammary gland and infectious viral loads in milk.
A new genetic test has identified a mutation causing progressive retinal atrophy (PRA) in English Shepherd Dogs, allowing breeders to eliminate the disease from their population. The test is available for purchase and will help prevent the disease from being passed on to puppies.
Researchers sequenced genomes of 179 wild-caught flies and museum specimens, producing low-cost, high-quality DNA sequences. The new data helps refine our understanding of the evolutionary relationships among 360 species in the Drosophilidae family.
Researchers at Texas A&M University uncovered how domestic rabbits become feral in the wild through natural selection. They found that all European, South American, and Oceania rabbits had a mix of feral and domestic DNA, explaining why they quickly adapted to living in the wild.
Arctic Mycena mushroom species have unusually large genomes, expanding beyond general Mycena expansion. Genomes show widespread growth across their genome, with genes and elements acquired through horizontal gene transfer.
The special issue explores challenges and opportunities in managing synthetic genomics risks, introducing a common global baseline for nucleic acid synthesis screening. Review articles provide insights into enhancing gene synthesis security and biosecurity practices of synthetic DNA providers.
Researchers at PNRI reveal how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. These complex rearrangements are caused by segments of DNA switching templates during the repair process, leading to disruptions in normal gene function and contributing to genetic disorders.
Researchers at Eötvös Loránd University sequenced and characterized the paradise fish genome, revealing a compact genetic material ideal for targeted genome editing experiments. This breakthrough opens up new possibilities for studying evolutionary development and complex behaviors.
The study reveals remarkable variation between primate Y chromosomes, showing rapid evolution and previously unstudied regions. The researchers found that over 90% of ape X chromosome sequences aligned to the human X chromosome, while only 14-27% of ape Y chromosome sequences aligned to the human Y chromosome.
Researchers at Harvard University have successfully sequenced the genome of the extinct little bush moa, providing new genetic evidence about its sensory biology. The study sheds light on how and why some birds evolved to become flightless, offering clues for future de-extinction efforts.
A new Research Training Group will investigate the evolution of nuclear genomes in organisms using different forms of reproduction, including asexual and sexual reproduction. The group aims to better understand the dominance of sexual reproduction in nature through empirical analysis of changing and evolving genomes.
Researchers created GraSSRep and rhea, tools that outperform current methods for handling repeats and structural variants in metagenomic data. These methods use self-supervised learning and graph neural networks to analyze microbiome data, offering new insights into biological processes and potential applications in antibiotic resistance.
A team of researchers has identified a key gene, Emx2, that helps explain the evolution of gliding in marsupials. The study found that accelerated evolution near this gene and its associated enhancers drives the development of patagium, the thin skin membrane allowing gliding.
The Hong Kong Biodiversity Genomics Consortium has launched a project to sequence the genomes of its eukaryotic biodiversity, which is rich in species but threatened by climate change. The first five genomes have been published in GigaByte Journal to coincide with International DNA Day.
Researchers have discovered how bella moths, found in eastern North America, Central America, and the Caribbean, use toxic pyrrolizidine alkaloids to guard their eggs and deter predators. The moths' ability to safely consume these toxins is linked to specific genes that may confer immunity.
Researchers identified a small RNA-binding protein called La that promotes gene editing with high efficiency. The team created a new protein, PE7, which harnesses La's activity to enhance prime editing, leaving unwanted byproducts at low frequencies.
A mysterious plasmid, pBI143, found in 90% of human intestines, could be used to identify faecal contamination and offer insights into intestinal diseases. The discovery also highlights the prevalence of 'cryptic' plasmids in human gut microbiota.
The study charts the family history of Arabica through Earth's heating and cooling periods over the last millennia. The research found that Arabica developed over 600,000 years ago in Ethiopia via natural mating between two other coffee species.
Researchers have discovered a virus that infects the fungus Batrachochytrium dendrobatidis, which causes heart failure in frogs and toads. The virus could be engineered to control the fungal disease and potentially save amphibian species.
A recent study has identified two distinct viral variants circulating in India, one with a low number of genetic variations and another with a high number of genetic variations. The latter variant is similar to LSDV strains from an outbreak in Russia in 2015, which may have contributed to the severity of the disease.