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.
A new framework developed by UCLA researchers suggests that genetic data from large libraries of sequenced human genomes can improve the predictive power of genetics in determining how well a patient will respond to commonly prescribed medications and the severity of any side effects. The study, which analyzed data from over 342,000 pe...
Researchers have discovered a major setback in the use of AZD7648 to promote precise gene editing, which causes massive genetic changes and genome instability. Despite this, scientists remain optimistic about advancing CRISPR-Cas technology to treat diseases.
Researchers simulated viral outbreaks to evaluate dispersal metrics from genomic sequences, finding that certain measures are less impacted by sampling size. The study reveals the relationship between viral spread and host animal dispersal capacity, as well as human interference factors.
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.
Researchers at Tokyo University of Science have developed a novel co-culture system that facilitates cultivating multiple indigenous skin bacteria in a balanced state. This breakthrough allows for detailed analysis of the biology of indigenous skin bacteria, which can lead to new treatments for skin diseases and improved quality of life.
Exposure to multiple environmental stressors simultaneously impairs the ability of herring larvae to react at a molecular level, reducing their capacity for acclimatization. This can lead to increased protein damage and cell injury, potentially affecting growth and survival.
A new study introduces the PWAS Hub, a powerful tool that explores gene-disease connections across 99 common diseases. The platform identifies genes linked to specific conditions and provides valuable genetic insights for clinicians and researchers.
New research links ancient Jomon hunter-gatherer genetic signature to higher body mass index (BMI) among individuals in modern Japan. The study found strong support for the tripartite ancestry model, suggesting a significant influence of Jomon ancestry on BMI across populations.
A recent study from Uppsala University found that genetic variation in cancer cells can enhance the effects of an already approved cancer drug, talazoparib, against liver cancer cells lacking a functional CYP2D6 enzyme. This suggests a potential for more individually tailored and effective cancer therapies.
A new k-mer sketching metagenomic profiler called sylph has been developed at Carnegie Mellon University, allowing for faster and more precise analysis of genomic data. The method breaks bacterial genomes into smaller subsamples and compares them to the initial sample, enabling the detection of rare genomes present in the sample.
More than 70 hematology researchers from the University of Miami Miller School of Medicine will showcase their work at the 66th ASH Annual Meeting & Exposition. Researchers from Sylvester Comprehensive Cancer Center are authors or co-authors on a significant number of posters presented during the event.
A new study from Iowa State University aims to increase emphasis on phenotypic plasticity in improving crop performance. Researchers linked crop traits, genetics and weather conditions using a quantitative framework, predicting flowering time and yield component traits with high accuracy.
A groundbreaking metagenomic sequencing test has proven effective in rapidly diagnosing almost any kind of pathogen, including viruses, bacteria, fungus or parasite. The test analyzes all nucleic acids present in a sample, replacing multiple tests with a single one and speeding up diagnosis.
Researchers have identified two genes, ATXN2L and MMP14, linked to both rheumatoid arthritis and osteoporosis. These genes play a role in apoptosis, immune regulation, and bone metabolism.
Researchers at Houston Methodist have identified a new strain of bacteria, Streptococcus dysgalactiae subspecies equisimilis (SDSE), linked to increasingly severe human infections. The study used integrative analysis to investigate the genome, transcriptome, and virulence of SDSE strains, shedding light on their molecular pathogenesis.
Researchers developed an algorithm to analyze high-resolution spatial data from Seq-Scope and other technologies, called FICTURE. This enables scientists to see how and where a gene is expressed at microscopic resolution, improving our understanding of gene expression.
A new genetic analysis method called Genomic Informational Theory (GIFT) has been developed to extract more precise data than previously used methods. GIFT is capable of analyzing large datasets and extracting novel information that was previously unavailable through genome-wide association studies (GWASs).
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.
Researchers at The Jackson Laboratory have developed a new combination of imaging and computational methods to study immune cell interactions. The approach reveals that interactions between immune cells in the vicinity of breast cancer or melanoma can predict immune responses and patient outcomes.
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.
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.
Scientists have identified over 23,000 genes known as auxiliary metabolic genes (AMGs) that viruses 'steal' from ocean microbes, affecting 37% of metabolic pathways. The research catalogues these genes, shedding light on the vital role of viruses in nutrient cycling and oxygen production.
Providencia rustigianii carries a type III secretion system and cytolethal distending toxin virulence gene, increasing its pathogenicity, similar to Salmonella.
A recent clinical trial found that the Nivolumab and Anlotinib combination therapy significantly reduced tumor size in nearly one-third of patients, while most experienced stability in their condition. The treatment also showed improved survival outcomes compared to historical data, with a manageable safety profile.
A genetics study suggests that bonobos have three distinct populations, each with unique genetic patterns. The research highlights the need for conservation efforts to protect these groups and ensure the species' survival.
A study of a 2000-year-old Yayoi individual's genome found that the majority of Japanese immigration came from the Korean Peninsula during the Yayoi and Kofun periods. The discovery provides new insights into the details of ancient immigration patterns to Japan.
Researchers analyzed DNA sequences from 25,000 pregnant Chinese women and identified genetic variants associated with maternal diseases such as gestational diabetes and obesity. The study also found links between maternal genetics and childhood diseases like gastroenteritis and acute tonsillitis.
Researchers at Hokkaido University have identified a key gene, glutathione peroxidase 4 (Gpx4), that enables Syrian hamsters to survive extreme cold by limiting cellular damage. The discovery could lead to new treatments for human health, such as improving organ preservation and using hypothermia as a therapeutic tool.
A new method using shared segments within the genome has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms and sudden cardiac death. The approach was developed by researchers at Vanderbilt University Medical Center and applied to a DNA biobank to detect carriers of rare disease-ca...
A new analytical tool called PATH can quantify tumor cell plasticity, which is a key characteristic of cancer that leads to treatment resistance and metastatic spread. Researchers used PATH to analyze tumor samples from animal models and human patients, revealing new details of how tumors exploit plasticity to spread.
A recent FAU study reveals that mesophotic corals can replenish declining shallow reef populations with strong genetic connectivity between shallow and deep zones. The research suggests that deeper corals could be a key source of genetic diversity for shallow reefs, providing valuable opportunities for recovery and restoration efforts.
A recent study by the Wellcome Sanger Institute and GeneDx analyzed nearly 30,000 families with developmental disorders, revealing that known genes explain over 80% of cases caused by recessive genetic variants. The team identified several new genes associated with these conditions, providing answers for previously undiagnosed families...
A new study provides further evidence that SARS-CoV-2, the virus responsible for COVID-19, likely originated from animals sold at the Huanan Seafood Market in Wuhan, China. The analysis of genetic data found that wildlife species such as raccoon dogs and civet cats were present at the market and may have carried the virus.
A new international study provides a list of wildlife species present at the Huanan Seafood Wholesale market where SARS-CoV-2 likely arose. Genetic material from raccoon dogs, civet cats, and other species was found in samples from market stalls.
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.
CREME, a new AI-powered virtual laboratory, allows scientists to run thousands of virtual experiments with the click of a button to identify key regions of the genome. This breakthrough may lead to discovering new therapeutic targets and giving scientists access to cutting-edge technology without a real laboratory.
A new study from the University of Copenhagen reveals that Neanderthals may have gone extinct due to their isolated lifestyle. The discovery of a male Neanderthal remains in southern France supports the hypothesis that small group sizes and limited genetic diversity contributed to their demise.
A study published in Kidney International Reports identified mutations in the IFT140 gene as a potential cause of polycystic kidney disease in patients without a family history. The findings suggest that these patients may be underdiagnosed due to mild symptoms and atypical kidney characteristics.
A DNA study by the University of Edinburgh has identified shared genetic links between dyslexia and attention deficit hyperactivity disorder (ADHD), affecting approximately 10% of the population. The study found that specific genetic regions overlap between the two conditions, with some genes shared between them.
Researchers have identified a surprising surge in thyroid and corticoid gene activity during the early larval stage of the Malabar grouper, which could help address disease management challenges in aquaculture. The study provides new insights into the complex hormone-driven processes underlying fish development and metamorphosis.
A new method, scAMF, reduces noise in single-cell RNA sequencing data while preserving crucial biological information. This enables more accurate cell type characterization and clustering. The framework also lays the foundation for constructing high-resolution cell atlases.
Researchers have analyzed over 43,200 ocean microbial genomes, uncovering a wide range of diversity and new insights into immune system adaptations. The study provides new enzymes that can break down common plastics and antimicrobials to combat antibiotic resistance.
A new robust classification system for termites has been developed through expert consensus and extensive data analyses. The updated 'dictionary' of termites resolves ambiguity in the previous system, providing a solid platform for studying termite diversification and ecosystem roles.
Researchers identified a genetic mutation that impairs virus replication in human cells, leading to asymptomatic infections. The same mutation enhances transmission in Aedes aegypti mosquitoes, allowing the virus to spread without triggering an outbreak.
The study used spatial transcriptomics and machine learning to analyze gene expression and cell distribution in PanINs, identifying key features of pancreatic cancer progression. Key findings include increased cell proliferation and decreased inflammatory signaling in high-grade PanIN lesions.
Scientists have mapped the global repertoire of genes that determine the male or female sexual fates in Plasmodium falciparum malaria parasites. This study reveals key regulators of gene expression during development and identifies novel candidate 'driver' genes, shedding light on the complex biology of malaria transmission.
Researchers developed MUSCLE, a method that combines single-molecule fluorescence microscopy with next-generation sequencing to profile complex biological processes. The technique enables simultaneous observation of vast arrays of samples, uncovering general trends and dynamic signatures.
A team analyzed 45 zooarchaeological remains and compared findings with contemporary data to assess the effect of sustained subsistence harvests on beluga genetic diversity, population structuring, and foraging ecology. The study found no significant changes in genetic diversity or population structuring over time.
Researchers analyzed historic potato leaves to understand the evolution of the potato-pathogen 'arms race' that led to the Irish potato famine. The study found that the pathogen has remained relatively stable over time, with some genes remaining unchanged despite human intervention.
Researchers have discovered that melanins play a crucial role in protecting lichens from harmful UV radiation and herbivores. In the lichen species Toniniopsis dissimilis, two-thirds of polyketide synthases are involved in melanin production, suggesting their importance for this species' survival.
Researchers have identified nearly 300 common and over 20 rare genetic variants as significant risk factors for schizophrenia. The study emphasizes the role of multiple genes rather than single-gene causation, revealing complexity in the mechanisms underlying the disorder.
A recent study published in Frontiers in Immunology highlights the crucial role of tissue-resident memory T cells in non-small cell lung cancer. The research found that these cells can significantly impact patient outcomes and guide personalized treatment strategies, particularly those involving immunotherapy.
Researchers analyzed ancient DNA from an 8,000-year-old sheep bone and found evidence of Brucella melitensis, a pathogen causing significant harm to livestock. The study suggests that brucellosis evolved around the same time as farming development, with early farmers creating conditions for pathogen host-jumping.
The E1910 trial demonstrated a significant survival advantage with blinatumomab immunotherapy, improving overall and relapse-free survival in patients with BCR::ABL1-negative B-cell precursor acute lymphoblastic leukemia. This finding contributed to the recent FDA approval of blinatumomab for these patients.
A large multicenter study has identified 34 new genetic diseases using genetic diagnostics, including a novel AI-powered analysis tool called GestaltMatcher. The study analyzed the genetic data of 1,577 patients and found changes in 370 different genes, with 425 children diagnosed with rare diseases.
The study analyzed over 1.8 million SARS-CoV-2 genome sequences to track virus variant spread and evolution. The introduction of free rapid antigen tests, mask regulations, and movement restrictions led to a significant decline in new variants entering Germany.
A deep metagenomic sequencing study in Berlin wastewater reveals common viruses like RSV and flu, seasonal visitors like asparagus-infecting viruses, and astroviruses with potential for gastrointestinal tract infections. The analysis also identifies novel enzymes with biotechnological potential, expanding our knowledge of viral diversity.
Researchers combined DNA markers from two genotyping systems to improve genomic predictions and GWAS for 24 fruit traits. The results showed increased accuracy and detection power when using combined datasets, suggesting benefits to leveraging historical data.
The study, published in PNAS, used ancient dingo DNA to analyze the genetic landscape of dingoes before European settlement. The research found that modern-day dingoes retain much of their ancestral genetic diversity and are distinct from domestic dogs.
Recombinhunt, a new data-driven method, identifies recombinant SARS-CoV-2 genomes with one or two breakpoints, offering high specificity and sensitivity. The approach also detects viral genomes from the monkeypox epidemic with high concordance.