Articles tagged with Genomic Analysis
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 established that the Pontic-Caspian steppes and northern Caucasus are the center of horse domestication in Eurasia. The study reveals that domesticated horses spread throughout Asia at the same time as spoke-wheeled chariots and Indo-Iranian languages.
A new AI-powered algorithm, GEM, has been developed to quickly identify genetic causes of serious disease in newborns. The technology leverages machine learning and natural language processing to analyze vast amounts of genomic data and clinical records, achieving an accuracy rate of 92% compared to existing tools.
Researchers developed an integrated framework combining single-cell and metagenomics to characterize microbes. The approach showed higher accuracy and precise binning, revealing more bacterial genera and intra-species diversity.
A new list of 546 expert-curated pathogenic variants in 84 genes has been developed for use in next-generation sequencing (NGS) genetic testing. This curated resource addresses the complexities of large assays and provides a scalable solution for test developers and laboratories.
A new algorithm developed by Carnegie Mellon University researchers offers a powerful tool for illustrating genome folding in cell nuclei. The Higashi algorithm analyzes chromatin interactions using single-cell Hi-C technology, revealing detailed variations in genome organization from cell to cell.
Researchers analyzed fecal metagenomic DNA sequencing data to see if specific donor strains correlated with successful treatment outcomes. They found no correlation between donor strains and response to anti-PD-1 therapy in melanoma patients.
Camille Goblet is conducting genomic analysis to strengthen zoo management and save the critically endangered black rhinoceros from extinction. The project will aid in establishing pedigree and understanding species' adaptability to different environments, informing strategies to conserve the species.
A UCL-led research team has discovered a new gene causing hypertrophic cardiomyopathy, an inherited heart condition. The study found that variants in the ALPK3 gene are responsible for 1-2% of adults with the condition, affecting approximately 1,250-2,500 people in the UK.
A medieval Spanish individual, known as the 'Segorbe Giant,' has been analyzed using ancient DNA. The research found that he had a mix of North African and local Spanish ancestry, suggesting a complex history of migration and intermixing. This study sheds light on a dark event in medieval Spain's past.
Scientists prove Meselson effect in ancient asexual species, showing survival without sexual reproduction is possible. The study of beetle mite Oppiella nova reveals genetic variance and adaptation through independent genome evolution.
A study by University of Utah biologists discovered a mutation in the ROR2 gene is linked to short beak length in domestic pigeons. This mutation also underlies the human disorder Robinow syndrome, which shares striking facial features with the pigeon phenotype.
Researchers analyzed genome sequences and mobile phone data to track Covid-19 spread in Bangladesh. A three-day window between lockdown announcements and enforcement led to increased infections as citizens traveled to other areas.
Despite 10,000 years of inbreeding, the kākāpō genome sequencing reveals that the species has lost potentially deleterious mutations and now carries fewer harmful mutations than extinct mainland populations. This finding suggests that natural selection may have facilitated genetic purging in small populations.
Researchers have uncovered thousands of new regulatory regions that control disease-linked genes, providing a significant step forward for genomics-driven precision medicine. This new resource, available worldwide, could help identify markers revealing which patients will benefit most from specific treatments.
Researchers have helped fill gaps in the rhino evolutionary family tree by analyzing genomes of living and extinct species, finding that African and Eurasian lineages separated 16 million years ago and that low genetic diversity is a natural state for rhinoceroses, not a consequence of recent population declines
A team of scientists led by Assistant Professor Lae-Hyeon Cho identified a single mutation in the gene that codes for cytidine triphosphate synthase (CTPS), an enzyme crucial for early endosperm development. The study showed that overexpressing CTPS in genetically modified rice plants results in a larger endosperm, opening up opportuni...
Scientists have developed a new live analysis system for plant stomata, allowing for rapid and affordable identification of desirable traits. This innovation has the potential to accelerate crop development for climate-resistance, addressing future food shortages.
An international team found the genetic basis for the seadragon's lack of teeth, leaf-like appendages and sex-determination gene. The research also showed that males care for fertilized eggs until they hatch.
Researchers at Rice University are developing novel computational approaches to track environmental microbiome dynamics over time, across species and after perturbations. The team will use biofilm-based 'species abundance networks' on scaffolds to observe how they form their own genome-exchange networks.
A new study published in Genome Biology found that the ability of gut bacteria to produce spores is associated with their adaptation to humans. Bacteria that can produce spores have larger genomes and are less abundant in the gut, while those that cannot have smaller genomes and are more adapted to human hosts.
Researchers have developed a new integrative genetic test, LYNX, that analyzes standard and novel molecular markers in common lymphoid neoplasms. The test provides accurate detection of mutations, identification of large genome-wide chromosomal aberrations, and assessment of immunoglobulin and T-cell receptor gene rearrangements.
Researchers identified six novel molecular subtypes of thymic epithelial tumors that are independent of World Health Organization histologic type. The study used genomic information from The Cancer Genome Atlas dataset and the IU-TAB-1 cell line, and found no association between WHO histologic subtype and molecular subtypes.
A study of 18 bat species in Switzerland revealed 39 different viral families, with 16 infecting vertebrates and potentially posing a risk to humans. A near-complete genome of an MERS-CoV-related virus was also identified, highlighting the need for continued monitoring of viruses carried by bats.
A genetic analysis of the ancient massacre in Potočani, Croatia, reveals that 70% of the victims were unrelated, suggesting a large and stable local population. The results indicate that large-scale indiscriminate killing occurred in pre-state societies, challenging previous assumptions about the nature of violence in the past.
A genomic analysis of the first wave of COVID-19 in the UK revealed that over 1,000 viral sequences were introduced, with lineages originating from Spain, France, and Italy. The study suggests that earlier travel interventions could have reduced the epidemic's acceleration and intensity.
A genomic analysis of early SARS-CoV-2 outbreaks in Boston found that a small number of importations led to most cases, while superspreading events played a significant role in the spread of the virus. The study tracked the downstream effects of these events and highlights the importance of prevention and mitigation strategies.
The iGenomics app allows iPhone users to create a mobile genetics laboratory, enabling pandemic and ecology workers to study DNA on-the-go. The device can quickly map viral pathogen sequences and identify mutations for diagnosis and treatment.
Researchers sequenced and analyzed coral genomes, discovering genes that may help corals adapt to ocean warming. The study found that Acropora corals diversified when the world's oceans were warmer, suggesting they could handle temperature changes.
A case series of 192 SARS-CoV-2 positive patients in Southern California investigated transmission routes and local community spread within the Los Angeles metropolitan area. The study found that multiple transmission routes existed, including household, healthcare-associated, and travel-related cases.
A new mobile app, Genopo, developed by Garvan Institute of Medical Research, makes genomics more accessible to remote or under-resourced regions and the hospital bedside. The app enables fast, real-time genomic analysis on a smartphone, opening possibilities for point-of-care testing and unlocking information in DNA or RNA.
Researchers found sex differences in gene expression in almost every type of human tissue, with effects observed in genes related to disease and clinical phenotypes. Sex biases were discovered in genes relevant to drug metabolism and placental development.
A unique strain of Shiga-toxin E. coli (STEC) has been identified through genomic analysis, revealing its genetic makeup and potential for severe disease. The study's findings may contribute to the development of vaccines against emerging STEC pathogens.
New research sheds light on penguin evolution, revealing a pivotal role for climate change in their geographic expansion. Genetic analysis indicates that penguins originated along temperate coastlines before expanding into Antarctic regions.
A new ancestral lineage of tuberculosis has been found in East Africa, with genome analyses suggesting a unique origin. The discovery reinforces the hypothesis of an East African origin for the disease and provides insights into its evolution.
A new study analyzing ancient DNA from 93 early Caribbean islanders reveals at least three separate colonization events in the region. The findings provide genetic evidence of distinct population histories and interactions between the earliest settlers and newcomers from South America.
Researchers have developed a new method called redHUMAN to simplify genome-scale metabolic models for analyzing human metabolism. This approach reduces the complexity of human genome-scale models by focusing on specific parts of metabolism while minimizing information loss.
The analysis of ancient genomes has revealed how demographic events such as migrations have spurred major cultural shifts in France. The study found that Magdalenian-associated ancestry survived beyond the Iberian Peninsula, and that Neolithic people who migrated to France descended from Anatolian farmers.
Researchers analyzed genomic data of 20 lion specimens, including extinct cave lions from Siberia and India, finding a shared ancestor 500,000 years ago. The study suggests limited gene flow between modern lions' lineages after their divergence 70,000 years ago.
Researchers analyzed over 2700 C. elegans genomes to understand the causes of mutations. They found that DNA damage and inaccurate repair mechanisms can lead to mutations, which are a root cause of cancer. The study challenges the assumption of a single cause for mutational signatures in cancer genomes.
The evolution of pregnancy in seahorses and pipefishes is linked to modifications of the adaptive immune system. Genomic analysis reveals divergent genomic rearrangements in the MHC II pathway, which may help study immune deficiencies.
Researchers from IDIBELL and ICO conducted a pilot study to analyze intestinal microbiota genome in colon cancer patients. They used two sequencing methods, 16s and Shotgun, and found both techniques consistent, with complete sequencing more sensitive but not contradictory to single-gene sequencing.
Researchers analyzed 6,267 individuals to infer African group contributions to North-, South-American and Caribbean populations, finding enrichment of West-African ancestry in northern latitudes and South/East African ancestry in southern South-America.
The round goby's exceptional adaptability is attributed to its immune system, which features up to 30 times more inflammatory genes than comparable species. This enables the fish to deal with pathogens and extreme environmental conditions, facilitating its successful colonization of diverse waters around the world.
A global surveillance system for antimicrobial resistance can be established through genomic analysis of sewage, providing valuable information about the types of bacteria present in specific areas. This approach has great potential as a tool for monitoring diseases and managing outbreaks globally.
Butler simplifies genomic data analysis by constantly collecting health metrics and automating self-healing modules. This reduces large project execution times from years to months, improving researcher productivity and efficiency.
Researchers used the Pan-Cancer dataset to classify structural variations in cancer genomes and link them to mechanisms of formation. They identified complex processes that can lead to cancer genes becoming active, and developed methods to identify these variations.
Researchers have identified new genetic drivers of cancer in non-coding regions of the genome, finding that many cancers are driven by mutations in these areas. The study confirmed previously reported drivers and invalidated others, while also identifying novel putative driver rearrangements near genes called AKR1C.
KnowEnG, a Knowledge Engine for Genomics, guides researchers through complex genomic datasets by relating genes of interest to existing knowledge. The platform enables seamless analysis and interpretation, removing obstacles faced by biomedical researchers.
A global genetic comparison has discovered ten ancestral lineages in Asia, whereas northern Europe has a single ancestral lineage. The study provides a comprehensive genetic map for Asia, guiding scientists in studying diseases unique to Asians.
Researchers tracked genomic changes in hybrid orangethroat and rainbow darters, finding regions with genetic divergence contributing to reproductive incompatibility. These differences likely disrupt cell division and alter gene expression, driving the evolution of distinct traits.
A recent study reveals that parasitic flukes have a long evolutionary history, with genome comparisons showing significant adaptations to different hosts. The research team found that fasciolid flukes may have originated in ancient African elephants and later expanded into Eurasian herbivores.
Researchers found that decreasing day length alone triggers dramatic weight loss in Siberian hamsters, regardless of food or temperature. The study reveals the cascade of signals that prepare the hamsters for winter, controlled by thyroid hormone and gene expression.
Researchers analyzed 41 ancient sub-Saharan Africans, revealing a multi-stage model for the spread of food production into Kenya and Tanzania. The study found that Stone Age herders across East Africa had closely related genomes, despite cultural differences, and that genes for lactose digestion were rare in first East African herders.
Researchers have discovered powdery mildew on phasey beans in Florida, a species native to tropical Americas. The fungus, Erysiphe fallax, also infects papaya, which could lead to significant financial losses for the industry if left unmanaged.
Michael Snyder received the 2019 George W. Beadle Award for his contributions to systems biology, including the development of widely-used technology for simultaneous gene analysis. His work has enabled the tracking of RNA molecules, proteins, and genes in humans, paving the way for personalized medicine.
Researchers at Garvan Institute of Medical Research have developed a computational method to reduce the amount of memory necessary for genome alignment, allowing for real-time analysis on smartphones. This breakthrough enables remote disease identification and point-of-care microbial infections.
Researchers developed a new technique called GOTI to evaluate genome-editing tool safety, improving detection sensitivity and accuracy. The method detected off-target effects in CRISPR/Cas9 and base editors, raising concerns about emerging technologies' unpredictable risks.
Researchers are studying Bronze Age activity in the Urals to understand demographic processes and settlement structures. They are analyzing palaeogenetic techniques, archaeological excavations, geophysical surveys, material culture, and archaeobotany to find answers about population genetics, cultural transformation, and demography.
A new study uses ancient nuclear genomes to determine the geographic origins of Aboriginal Australian remains, enabling their return to ancestral lands. The analysis shows that for most all of the ancient nuclear genomes, the most closely related contemporary genome was from people living today in the same geographic region.
A genomic analysis of Lassa virus genomes from patients in Nigeria found that the surge in cases in 2018 was not driven by a single dominant virus strain. The study suggests that human-to-human transmission may be rare, with evidence pointing to multiple independent zoonotic transmissions through contact with rodent feces or urine.