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.
The new T2T reference genome adds nearly 200 million base pairs of novel DNA sequences, including 99 genes likely to code for proteins. This completes the first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy.
Researchers have completed the first complete sequence of a human genome, providing new information on genetic variation and its impact on diseases. The study, led by Johns Hopkins University scientists, reveals over a million previously unknown genetic variants.
A multicenter study found mutations in the SARS-CoV-2 N protein associated with increased viral loads and severe disease symptoms. The changes enabled the virus to hijack host cell translation machinery, leading to a life-threatening cytokine storm.
Scientists have deciphered the helmeted honeyeater's genome and created a genetic map to guide advanced genetic rescue methods. The new tools allow for precise breeding decisions, reducing inbreeding and its negative impact on population health.
The Bank of Okinawa has awarded ¥1 million grants to two startups, Genome Miner and Menopause and Beyond, participating in the OIST Innovation Square Startup Accelerator Program. The grants aim to support their entrepreneurial journey and contribute to the development of the local economy.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Researchers found that fruit flies underwent widespread physical and genomic adaptation within weeks, with changes documented in 60% of their genome. The study's findings suggest a new paradigm for understanding the timescale of evolution, highlighting rapid and dynamic adaptation to environmental conditions.
The African BioGenome Project aims to sequence the genomes of Africa's endemic plants, animals, fungi, and protists. This will build resilience in breeding, sustainable food systems, and biodiversity conservation, aligning with the post-2020 Global Biodiversity Framework and the United Nations Sustainable Development Goals.
Researchers at Rice University developed a new program called Variabel to accurately identify 'low-frequency' variants of the virus that causes COVID-19. By distinguishing true variants from sequencing errors, Variabel enables rapid characterization of within-host variation, which could aid in discovering future mutations.
A study reveals that new bird species arise in lowland habitats before moving higher into mountainous areas, where genetic differences accumulate. The research suggests that climate fluctuations, particularly during the Pleistocene era, contributed to the evolution of these high-altitude populations.
A team of paleogeneticists successfully sequenced the genome of the extinct Christmas Island rat, but found that key genes related to olfaction were missing. The study reveals the challenges and limitations of de-extinction across all species, highlighting the need for a more nuanced approach.
Researchers highlight recent advancements in pear genome sequencing, genetic transformation, and breeding technologies. The study provides a roadmap for future research, focusing on genome development, resequencing, and integrated omics technologies.
A new DNA test has been developed to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than existing tests. The test uses Nanopore sequencing technology to scan for abnormally long repeats within patients' genes, which are the hallmarks of disease.
Scientists at Karolinska Institutet have developed a new high-precision tool to identify the function of noncoding DNA sequences, which may eventually contribute to the development of targeted drugs. The study reveals that these noncoding parts of patients' DNA are linked to genetic changes in diseases.
A study found that a subtype of Newcastle disease virus caused the deaths of dozens of pigeons in São Paulo City. The researchers sequenced the viral genome and identified tissue wounds to determine the cause of death, revealing subgenotype VI.2.1.2 as the responsible pathogen. The risk to humans and poultry is considered low.
Researchers have sequenced the genome of Candida glabrata, a deadly yeast infection that's resistant to antifungal drugs. The study found genes associated with virulence and drug resistance, shedding light on how the pathogen spreads and evolves.
A study by researchers at the University of Pennsylvania found that a domestic cat was infected with the SARS-CoV-2 delta variant, but without significant genetic changes. This discovery highlights the virus's ability to infect a wide range of hosts and raises questions about its evolution in different species.
A team of researchers from the University of Malta identified three high-risk gene variants associated with familial osteoporosis through whole genome sequencing. These variants were tested in a large case-control collection and found to be linked to bone mass and reduced protein function.
A genomic study found that England's 14-day quarantine measures for travelers helped prevent the spread of SARS-CoV-2, particularly among 16-20 year olds. The study analyzed contact-tracing data and genome sequences to track the spread of genomes from imported cases.
The Colorado potato beetle has evolved rapid resistance to insecticides by leveraging its existing genetic diversity, allowing different populations to quickly adapt and overcome new chemicals. This wealth of diversity will likely make the pest difficult to control in the future.
Researchers used Hi-C sequencing to identify three-dimensional chromosome structures in 11 carnivore species, showing conserved chromatin structures across families despite millions of years of evolution. This approach could facilitate identifying related genes and placing them in context.
A new bacterial strain, Noda2021, belonging to Candidatus phylum Dependentiae has been isolated and sequenced, revealing its genetic material and potential ecological significance. This discovery sheds light on the diversity of microorganisms in Japan's microbiological hotspots.
Scientists found a protective gene that counters a deleterious mutation causing atrial septal defects, allowing some people with the mutation to thrive. The discovery provides valuable clinical information for families affected by congenital heart disease.
Researchers at UC Davis MIND Institute found a novel gene linked to autism spectrum disorder in newborns. The study analyzed DNA methylation signatures in the placenta, which reflected fetal brain development and early autism diagnosis.
A researcher is studying the pufferfish genome to understand its evolutionary history and how it developed distinctive physical traits. The study aims to uncover the underlying genetic mechanisms behind the fish's varying body shapes and extreme sizes.
A research team led by University of Adelaide found tangible evidence that Australian elapids arrived by sea rather than land. The study analyzed genomes of two Australian elapids and compared them to marine and semi-marine elapid sea snakes, finding similarities with marine life genes.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A comprehensive 'vertical map' of airborne microorganisms has been created, showing that temperature is the single most important factor influencing their composition. As global temperatures rise, this could lead to significant changes in the air microbiome, affecting human health and food security.
Scientists have developed a gene-silencing tool that can quash gene activity across generations using small noncoding RNA molecules. This technique, called piRNAi, has expanded the molecular toolkit for gene manipulations and allows for more detailed investigations in nematode worms.
A new Northwestern Medicine study found a probable variant of concern, eta, circulating in Nigeria in early 2021, but was grossly underreported globally. The study discovered that eta had characteristics of a variant of concern and outcompeted the alpha variant in West Africa.
The first US peer-reviewed study on omicron patient outcomes found significant differences in infection behavior. Ominron patients are significantly younger, have increased vaccine breakthrough rates, and are less likely to be hospitalized compared to patients with alpha or delta variants.
Scientists have discovered that the genomes of marine invertebrates have been surprisingly stable across deep time. The study found that chromosomes are remarkably similar among sponges, jellyfish, scallops, and even humans, with some genes traveling together for almost a billion years.
Researchers are using a salamander virus to predict the future of biodiversity amid a changing climate. The study aims to create better models to understand how climate change and infectious diseases interact, with potential implications for conserving species at risk of extinction.
The Earth BioGenome Project aims to generate reference genomes for all eukaryotic life, providing tools for preventing biodiversity loss and pathogen spread. With over 5,000 scientists involved, the project is entering a new phase with ambitious goals, including producing genomes for 9,400 taxonomic families.
Roswell Biotechnologies has developed a molecular electronics sensor on a semiconductor chip, enabling real-time detection of single molecules for diverse applications including drug discovery, diagnostics, and DNA sequencing. The platform offers unlimited scalability in sensor pixel density and high resolution measurements.
Scientists at UC Berkeley developed a new structure prediction method that modeled 500 secreted proteins in fungal pathogen Magnaporthe oryzae. The method revealed novel sequence-unrelated effectors and common folds among plant pathogens.
Ancient Mesopotamian societies produced equid hybrids called kungas by crossing domestic donkeys with wild asses, offering a unique combination of strength and control. These animal hybrids were used for warfare and travel before the arrival of domestic horses in the region.
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
A new study has identified 74 previously unknown genomic regions that influence how people's bodies break down food into energy. These findings could help develop more personalized ways to maintain a healthy weight by taking into account an individual's genetic profile.
Researchers have discovered a molecular mechanism that contributed to the emergence of the seventh cholera pandemic. The study found that modified Vibrio cholerae bacteria used their type 6 secretion system (T6SS) to outcompete and kill older strains, leading to their displacement.
Researchers used new technology to study Grapevine Pinot gris virus propagation in a specific vineyard in France. The study found that over 75% of tested plants became infected between 2014 and 2015, with only a marginal number of grapevines testing positive during the remaining five years.
Scientists have analyzed the lychee genome to uncover its ancient history and identify genetic markers for breeding programs. The study found that lychees were domesticated independently in two regions of China, Yunnan and Hainan, leading to early- and late-maturing varieties.
Researchers have found COVID-19 infection in white-tailed deer in six northeast Ohio locations, suggesting the virus may be spreading among wildlife. The study's findings indicate that infected deer can potentially harbor new strains of SARS-CoV-2, complicating human mitigation and control plans.
A new study provides a detailed timeline of mammal evolution, confirming that modern placental mammal groups postdate the K-Pg extinction. The researchers used a novel computational approach to analyse a large genomic dataset and answer a long-standing question about mammal origins.
The study developed a new strategy to sequence thousands of bacterial isolates with collaborators from economically-challenged countries, aiming to make genomic data more accessible. The 10,000 Salmonella genomes research consortium sequenced and analysed 10,000 Salmonella genomes from Africa and Latin America, strengthening global res...
Researchers have created a new approach to edit genes within specific bacteria in a community using CRISPR-Cas9, enabling targeted genetic modifications. This technology could be used to track edited microbes and potentially treat diseases like digestive issues or create more resilient crops.
The research provides a foundation to better understand redwood responses to climate impacts and pathogens. Hundreds of gene families unique to the coast redwood were found, many helping trees respond to stress and resist disease.
Despite making progress, genome sequencing of 1.66 million animal species remains incomplete, with vertebrates accounting for 54% of current sequences. Invertebrates, including insects and spiders, comprise only 34% despite representing 78.5% of all species.
A new study led by York University reveals that Western Honey Bees originated in Western Asia, with genetic data suggesting a strong connection to this region. The research highlights the importance of understanding the origin and evolution of these vital pollinators to inform their management and conservation.
A study published in Proceedings of the Royal Society B reveals that a rare alga, Chlorokybus, contains at least five distinct species previously thought to be a single entity. Genetic analysis confirmed these findings, shedding new light on the biodiversity and evolutionary pathways of this key algal group.
A rapid same-day test has been developed to identify secondary infections in COVID-19 patients on intensive care, allowing for targeted antibiotic treatment and reduced risk of antimicrobial resistance. The test uses nanopore sequencing technology to analyze bacterial and fungal pathogens present in patient samples.
Researchers have sequenced the Arabidopsis genome at unprecedented detail, shedding light on centromere evolution and revealing genetic and epigenetic topography. The findings provide insights into the genomic equivalent of black holes, a region that has long been challenging to analyze.
New study traces common ancestry of Japanese, Korean, and Tungusic languages to millet cultivation and early Amur gene pool in West Liao River region. The Farming Hypothesis is supported by linguistic, archaeological, and genetic evidence showing early farmers' spread across Northeast Asia.
A new study has catalogued all possible genetic variations in over 3,000 chickpea plants to improve the crop's yield and resilience to climate change. The research proposes a breeding model using genomics-assisted breeding to enhance agriculturally valuable traits.
An international team sequenced 3,366 chickpea lines from 60 countries, identifying 29,870 genes, including 1,582 novel ones. The study provides a complete picture of genetic variation within chickpea and validated roadmap for improvement.
A new computer program called Codetta can analyze the genome sequences of over 250,000 bacteria and archaea to identify alternative genetic codes. This could help scientists understand how genetic codes evolve and change.
Researchers will identify and track SARS-CoV-2 variants using genomic sequence analyses. The project aims to understand the emergence and spread of the virus in West Virginia, helping public health officials prepare for future outbreaks.
Researchers have sequenced the quillwort genome, uncovering unique genetic mechanisms regulating CAM photosynthesis in these aquatic plants. The study found differences in phosphoenolpyruvate carboxylase function between quillworts and terrestrial plants.
A new study found that whole genome sequencing increases the diagnosis of rare genetic disorders by 31%, shortening the diagnostic odyssey for affected families. This approach provides opportunities for future research and can identify non-mitochondrial disorders with specific treatments.
An international team of researchers identified genes associated with plant survival in the Atacama Desert, a harsh environment in Chile. These findings may help scientists breed crops that can thrive in increasingly dry climates and mitigate the effects of climate change.