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 study by Institut Pasteur reveals that the 'bony-tongues' and 'eels' are genetically linked, shedding light on the evolutionary history of teleost fishes. The researchers sequenced genomes of several species and reconstructed relationships between different fish groups.
A new study links genetic changes in kidney cancer to patient outcomes, identifying four groups of patients based on mutation presence. This research may lead to more effective prediction of recurrence risk and personalized treatment for thousands of patients annually.
The study reveals that genetic variation is preserved in a highly fragmented population of the Saimaa ringed seal. The unique shape of Lake Saimaa compensates for the detrimental effects of small population size, allowing the species to maintain its adaptive potential.
A recent study published in Human Genetics has confirmed the genetic link between migraine and blood sugar levels, identifying shared loci and genes. The researchers found a significant correlation between fasting insulin and glycated haemoglobin with both migraine and headache.
A recent study found that metformin users had distinct DNA methylation profiles compared to non-users, potentially revealing its role in longevity. The research identified several pathways related to delirium and aging, highlighting the need for further investigation into metformin's mechanism of action.
A recent study published in Immunity reveals that human T-cell receptor genes exhibit unexpectedly high variability among individuals, with each person having a unique set of gene variants. The researchers identified 175 new gene variants originating from Neanderthals, which are present in up to 20% of modern humans in Europe and Asia.
Scientists sequenced genomes of 'eel' species to reconstruct relationships between teleost fishes, ending decades-long controversy over their evolutionary history. The analysis revealed a single group, Eloposteoglossocephala, that encompasses both eels and bony-tongues.
A research group at Nagoya University has sequenced 95.6% of the Nicotiana benthamiana genome using next-generation sequencing technology. The findings provide insight into the plant's ability to perform grafting, a rare phenomenon in plants.
A study published in PLOS ONE found that common microbiome analysis techniques can yield erroneous results due to incomplete DNA databases. The researchers used computer simulations to test the consistency of current methods, showing that a large number of detected species are not actually present in the community.
A study found white-tailed deer are harboring SARS-CoV-2 variants that were once widely circulated but no longer found in humans. The deer may have become infected through contact with humans, and the virus has adapted to the deer population, potentially making it more transmissible between them.
A genomic study of the Seattle 2017-2022 Shigella outbreak revealed its origin as international travelers from areas where Shigella was common. The study also found that multi-drug resistant Shigella has become a growing global health concern, primarily affecting men who have sex with men and those experiencing homelessness.
The study reveals unexpected mechanisms that enable Aromatoleum aromaticum EbN1 T to adapt to changing environments. By analyzing its metabolic network, researchers developed a model to predict growth under diverse conditions.
Researchers identified a subset of mutations within tumor mutation burden that remain persistent and visible to the immune system, increasing likelihood of response to immunotherapy. This finding enables clinicians to more accurately select patients for clinical trials or predict clinical outcomes with immune checkpoint blockade.
Researchers developed a computational analysis method to detect and identify somatic SVs in leukemia patients, gaining insights into molecular consequences and potential therapies. The approach enables understanding of individual somatic mutations and may lead to targeted treatments.
A study published in Evolution found that polygamous birds have higher efficiency of natural selection, leading to fewer harmful mutations and increased genetic diversity in small subsets of species with polygamous females.
Researchers at Children's Hospital of Philadelphia developed ESPRESSO, a new computational tool that can accurately discover and quantify RNA molecules from error-prone long-read RNA sequencing data. This will enable better diagnosis of rare genetic diseases and discovery of potential therapeutic targets in cancer.
Researchers analyzed over 600 genome sequences to chart the complex history of Y. pestis, the bacterium that causes plague. They found an unstable molecular clock and identified five populations throughout history, including ancient pandemic lineages.
A recent study found that genomic testing can identify genetic causes of childhood hearing loss and provide critical information on its clinical characteristics. The researchers detected variants responsible for hearing loss in 43 different genes, and the severity of hearing loss varied by gene.
Researchers analyzed 100 ancient genomes to understand kinship and marriage rules in Minoan Crete and Mycenaean Greece. They found that cousin marriages were common, with over 90% of sons marrying within their own family's hamlet.
A new toolkit enables researchers to map individual RNA data to a more diverse 'pantranscriptome', addressing reference bias and increasing the accuracy of gene expression mapping. This approach builds on pangenomics, allowing for the comparison of an individual's genome to genetically diverse cohorts of reference sequences.
Researchers advocate for descendant community involvement in ancient DNA research to ensure benefits and risks are shared fairly. Without such guidance, the science can be exploitative, perpetuating colonial practices and harming modern Indigenous groups.
A landmark study found a strong genetic correlation between higher education and protective causal association with several gut disorders. The research reveals that better education reduces the risk of diseases such as Alzheimer's and inflammatory bowel disease (IBD).
A new study analyzes 48 ancient human genomes and over 16,500 modern Scandinavian genomes to reconstruct the region's genetic history. The research shows that ancestries introduced during the Viking period later declined, suggesting ancient immigrants contributed proportionately less to the modern gene pool.
A study in Serrana, Brazil showed that mass vaccination reduced severe cases and death rates even while gamma and delta variants were circulating. Vaccination coverage reached 80% of the target population.
A massive international data analysis uncovered hundreds of signals for new treatment and prevention targets in colorectal cancer. The study identified 250 independent risk associations, including 50 newly discovered ones, through analyzing genomic, transcriptomic, and methylomic data.
A comprehensive analysis of over 100,000 colorectal cancer cases identified 100 new genetic risk factors strongly linked with the disease. These findings could help clinicians determine who's at highest risk for early detection and potentially identify candidates for preventive treatments.
A recent analysis of Psychiatric Genomics Consortium datasets found genetic correlations between psychiatric disorders differ between European and East Asian populations. Japanese psychiatrists tend to diagnose bipolar disorder less frequently in patients with psychotic features.
A study found that antibodies to common antibiotic gentamicin are associated with an increased risk of progression to type 1 diabetes in children already genetically at risk. The researchers also identified an association between the FUT2 gene and the production of these antibodies, which may be compounding risks for type 1 diabetes.
Researchers used WGS data of 10,585 people from China to construct the first blood virological profile of the Chinese population. The study identified 14 viruses widely present in the population, including hepatitis B virus, which was detected in 1.69% of individuals.
Researchers uncovered distinct DNA methylation profiles in ocean microbes, shedding light on population dynamics and interactions. The study's findings have significant implications for understanding pathogenicity and developing new approaches to monitoring environmental health.
Researchers from Trinity College Dublin analyzed ancient DNA from two men with multiple osteochondromas, a rare genetic disease, and identified new mutations in the EXT1 gene. This study is the first to discover a new disease mutation in ancient genomic data.
A new AI evaluation framework, GOPHER, has been developed to assess the efficiency of genome analysis algorithms. The tool judges programs on their ability to learn genomic biology, predict patterns, handle noise, and provide interpretable decisions.
The German Research Foundation renewed CRC 1361 for an additional four years to explore mechanisms of DNA repair and genome stability. The consortium aims to elucidate how cells safeguard genetic information and promote human health by understanding DNA damage signaling pathways.
A new study maps the global landscape of antimicrobial resistance, revealing surprising transmissions in Sub-Saharan Africa and highlighting the need for tailored strategies to combat resistance. The research, which analyzed sewage samples from 243 cities in 101 countries, found that resistance genes are more frequently transmitted acr...
Researchers found shared genetic factors that contribute to severe COVID-19 risk and blood analyte levels. High triglyceride levels were strongly linked to increased risk of severe disease, supporting the use of lipid-lowering drugs against severe COVID-19.
A new study explores the value of 'trash data' from cancer genome sequencing, identifying new strategies to uncover previously unexplored information. The researchers found that genomic and transcriptomic data contain relevant information that can help elucidate carcinogenesis and discover putative biomarkers with clinical applications.
Researchers have identified genetic variants associated with natural resistance to SARS-CoV-2, including a gene linked to mucin production. These findings may help develop vaccines and treatments for viral diseases by understanding the mechanisms underlying immune responses.
A new study analyzed tumor biopsies from patients with newly-diagnosed germinal center B cell lymphoma and found that CREBBP mutations were associated with lower disease-free survival rates. The researchers identified CLMA as a practical tool to translate experimental findings into clinical applications.
A new guideline aims to standardize human genomic sequencing research in Canada by establishing essential core consent elements. This will enable researchers to collect patient data in a consistent manner, ensuring transparency for participants and streamlining the review process.
A new statistical method called CLIMB provides a more efficient way to analyze genomic data across multiple conditions. The method combines principles from two traditional techniques, reducing computational intensity and producing biologically interpretable results.
Researchers from SickKids have uncovered new genes and genetic changes associated with autism spectrum disorder, including 134 linked genes and gene copy number variations. The study offers a better understanding of the 'genomic architecture' underlying this disorder.
Researchers found that SARS-CoV-2 increases methylation of host cell RNA, which can help the virus evade the immune system. This discovery provides insights into how different variants escape immunity and offers potential avenues for novel COVID-19 treatments.
Researchers developed STAARpipeline to analyze rare genetic variants, enabling comprehensive analysis of noncoding variants. The tool found significant associations in gene-centric and non-gene-centric analyses, advancing genetic research.
A new study by UCL researchers found that tailoring whole genome sequencing analysis to individual patients can double the diagnostic rates of rare diseases. The personalised approach increased the diagnostic rate from 16.7% to 31.4%, detecting potential disease-causing variants in a further 3.9% of patients.
Researchers identified specific monkeypox mutations that contribute to its continued infectiousness. The virus is accumulating mutations where drugs and antibodies from vaccines are supposed to bind, making it smarter and more infectious.
Researchers used DNA from two ancient human individuals to unravel the deep demographic history of South America, providing new genetic evidence supporting existing archaeological data. They also discovered migrations along the Atlantic coast for the first time and found evidence of Neanderthal ancestry within ancient genomes.
The Association for Molecular Pathology (AMP) has published consensus recommendations for using in silico approaches to validate Next-Generation Sequencing (NGS) data analysis pipelines. The guidelines provide expert opinion on the advantages and disadvantages of different types of in silico data and offer general recommendations for s...
The study found that genetic variants associated with height are concentrated in regions covering just over 20% of the genome. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
Researchers have completed and released a chromosome-scale genome sequence of the Aldabra giant tortoise, providing a much-needed genetic resource for rescue efforts. The data will aid in breeding efforts, comparative studies with other tortoise species, and understanding the species' remarkable size.
Researchers have identified microRNA-7 as a non-classic genetic risk factor for hereditary obesity. The molecule affects energy balance and appetite regulation in humans and mice, highlighting the need to examine non-genetic factors in gene-based studies. This discovery may lead to new therapeutic approaches for treating obesity.
Researchers used multi-omics technologies to analyze samples from 350 patients with major depressive disorder, finding distinct blood-based signatures between those with and without a history of attempted suicide. Variations in genes CLOCK and ARNTL were associated with lower antidepressant response rates.
Researchers at KAUST have identified thermophilic bacteria with potential to degrade oil contamination. The study reveals that certain bacteria can secrete surfactants and absorb emulsified petroleum into their cells for degradation via enzymatic activity.
This study reveals genetic insights into artificial selection and ecological adaptation in silkworms, identifying 468 domestication-associated genes and 198 improvement-associated genes. The pangenome dataset also sheds light on the origins of domesticated silkworms and their economic traits.
Researchers identified at least 55 independent strains of the Delta substrain AY.29 in 20 countries, with 41 potential links to Olympic and Paralympic participants. The study analyzed genomes from over 6 million international samples, uncovering the spread of the variant during the Tokyo Olympics.
Researchers at the University of Maryland Baltimore County have discovered that some viruses can sense their environment and
Researchers developed a faster, more affordable method to analyze serological data and predict COVID-19 wave behavior. The study showed that vaccination boosted immunity, with hybrid immunity producing higher protection levels. Antibody levels rose quickly after the first dose, especially in cities where case numbers were highest.
Researchers at Kyoto University have developed a new method to detect intraspecies genomic diversity, or microdiversity, of uncultivated bacteria. This approach allows for a more comprehensive understanding of microbial ecology and evolution, as previously overlooked variations are now being studied.
Research institutes from Finland, Germany, Norway, Spain, and Sweden have launched the Federated European Genome-phenome Archive (Federated EGA) to improve data sharing across national borders. The new platform enables secure access to sensitive human data for research while respecting national data protection regulations.
Geisinger Health System is conducting a comprehensive study on the genetic causes of cerebral palsy, funded by a $3.3 million NIH grant. The research aims to identify individual genes and regions responsible for the condition, which affects 1 in 500 people worldwide.
Researchers at USC discovered that the COVID-19 virus uses a human enzyme to accelerate its mutations, allowing it to evade vaccines and spread quickly. By understanding this mechanism, scientists can predict new variants and develop more effective vaccines.