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 method using machine learning corrects damaged DNA and unveils true mutation processes in tumour samples, helping early cancer detection and accurate diagnosis. The tool predicted over 90% of developing cancer processes, offering a significant advancement in cancer patient care.
Researchers used high-resolution imaging techniques to identify a new ant species and genus, †Desyopone hereon gen. et sp. nov., from 16-23 million year old Ethiopian amber.
The study developed a high-throughput method for screening non-photochemical quenching rates in field-grown plants using pulse amplitude modulated chlorophyll fluorescence analysis. This approach enables testing hundreds of genotypes within a day, paving the way for genome-wide association studies.
Scientists reconstruct evolution of complex multicellular organisms using genomic data and computational models, revealing gradual changes that began early in evolution. The research reveals distinct paths taken by animal and fungal lineages, shedding light on their shared eukaryotic supergroup.
Mutations in EnhP disrupt a non-protein coding gene, causing pancreatic malformations and diabetes. The study sheds light on the hierarchical operation of enhancers in gene regulation.
A study of Y chromosome genomic analysis reveals evidence of a South American settlement pre-18,000 years ago. The findings also suggest a profound genomic impact during the Younger Dryas period.
A recent study analyzed millions of SARS-CoV-2 genomes and found that recombination occurs more frequently in the spike protein region. The researchers developed a new software, RIPPLES, to detect this phenomenon, which is crucial for understanding the evolutionary history of the virus.
Researchers analyzed genomic data from 44 women with germline PTEN mutations who developed breast cancer and compared it to sporadic breast cancers. They found that PTEN and PIK3CA were the most frequently somatically mutated genes in PHTS-associated breast cancers, indicating that somatic mutations in PTEN drive these cancers.
Researchers have constructed a comprehensive map of CLL genetic changes, providing a better understanding of the complex malignancy. The study identifies key genes and subtypes with distinct prognoses, paving the way for more accurate diagnoses and personalized treatments.
The Sixty-third Supplement to the Check-list of North American Birds updates bird classifications, including meadowlark species splits, hummingbird recognitions, kite separations, and the addition of a giant-petrel. New subspecies are also recognized for some bird species, reflecting advances in genetic analysis.
A Canadian study reveals that international travel restrictions were key to reducing the spread of new COVID-19 variants. By limiting virus importations, governments gained time to ramp up testing, tracing, and healthcare interventions.
Researchers at Gladstone Institutes developed a tool called Retro-Cascorder, which logs a cell's genetic activity for days at a time. This allows scientists to create living biosensors that can record changes to their environment.
The study proposes a new statistical method to analyse population admixture, enabling more accurate determination of migration wave timing. The authors applied this method to Colombians and Mexicans, revealing two episodes of admixture in different time periods.
Two studies suggest the COVID-19 pandemic originated from animal-to-human transmissions at the Huanan Seafood Wholesale Market in late November 2019. Genetic and geographic analyses pinpoint the market's western portion, where live animals were sold, as a key location for early cases.
Researchers confirm COVID-19 originated from live animals sold at Huanan Seafood Wholesale Market in Wuhan, China. The market was the epicenter of the epidemic, with vendors getting infected first and setting off a chain of infections.
A study published in Nature Communications describes the performance of GTRx, an automated disease management system that integrates rapid Whole Genome Sequencing diagnosis with analysis pipeline. The system provides clinical decision support to guide physicians in selecting optimal therapies for critically ill infants and children.
The partnership aims to enhance early detection and reporting for emerging diseases, building a robust decentralized global surveillance network. The collaboration will focus on advancing equitable data-sharing practices, bolstering epidemiological and genomic surveillance in low- and middle-income countries.
Scientists analyzed DNA sequence data from nearly 71,000 people worldwide and identified mutations in ACE2 and TMPRSS2 genes that affect protein expression, influencing COVID-19 susceptibility and severity. The study suggests a potential new diagnostic method based on host cell variation rather than the evolving virus.
Quantitative disease resistance is a promising approach to combat plant diseases, which cause an estimated 13% loss of global crop yields annually. Researchers aim to identify disease resistance mechanisms for important corn diseases and develop genetic resources for the broader maize genetics community.
The California Conservation Genomics Project is generating high-quality data to inform conservation policy, mapping genetic diversity across the state's diverse ecosystems. By analyzing over 22,000 genomes, researchers aim to identify critical habitats for protection and create a snapshot of genomic biodiversity.
Researchers found that socially isolated bumblebees exhibited an increase in affiliative behavior, unlike expected aggression. The brain development of isolated bees showed similarities with group-reared bees, suggesting controlled chaos in the absence of social environment.
A new study found that the O139 cholera variant lost antimicrobial resistance and changed toxin production, leading to its unexpected decline. The findings suggest continuous monitoring of genetic changes is key to preventing future outbreaks.
A new study reveals that over half of human populations worldwide have experienced sharp dips in population size due to founder events, associated with geographic isolation, hunter-gatherer lifestyle, or cultural practices. This analysis technique, ASCEND, will help identify groups at high risk of genetic diseases.
A new analysis of ancient and contemporary genomes shows that more than half of historical groups experienced founder events, leading to reduced genetic diversity. This research has significant implications for scientists studying human genetic variation and the discovery of disease-causing mutations.
A Rutgers study predicts a woman's risk of miscarriage based on her genome, providing valuable insights for reproductive choices and fertility treatment plans. The researchers developed an algorithm using machine learning methods to identify genetic variants associated with aneuploidy in human eggs.
Researchers used nanopore sequencing to detect specific genomic disorders in a fraction of the time it takes traditional testing. The study showed that diagnosis of larger chromosomal alterations could be made in one day, while smaller CNVs took two days.
A Galapagos giant tortoise species previously believed to be extinct has been confirmed to still exist, thanks to genetic research that sequenced the genome of a single specimen and compared it with living individuals. The study's findings offer hope for the recovery of this species.
A University of Otago-led study used genomic analysis to track the origins of kelp found on southeastern New Zealand beaches, revealing connections to South Georgia and Marion Island. Kelp rafts carry a variety of organisms across vast distances, influencing ecosystem dynamics.
A recent genetic study found a link between height and lower risk of coronary heart disease, as well as higher risk for peripheral neuropathy and circulatory disorders. Being tall appears to protect against cardiovascular problems, but may increase the risk of non-cardiovascular conditions.
Researchers studied meiotic cohesin complexes' effect on chromosome structure and genomic integrity in embryonic stem cells. Maintaining adequate levels of REC8 and STAG3 factors ensures chromosomal stabilization and sister chromatid cohesion.
Researchers at Karolinska Institutet have mapped the formation of hybrid strains in Trypanosoma cruzi, a parasite causing chronic infection and severe symptoms. These hybrids are more effective at evading the immune system and causing disease, but understanding their formation can help develop new diagnostic and treatment methods.
Researchers developed a digital subtraction technique to identify viral DNA in tumor samples, achieving comparable results to standard clinical methods. The study discovered novel associations between specific tumors and viruses, warranting further investigation.
Researchers developed a comprehensive regional diagnostic method using DNA testing, allowing for precise identification of microorganisms and estimation of their abundance. The technique has the potential to revolutionize our understanding of the ocean's food web and its role in removing greenhouse gases.
A recent study published in Neuro-Oncology found that genomic profiling led to more aggressive patient management resulting in improved clinical outcomes compared to traditional biologically matched historical cohorts.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.
A new genetic study supports the Muwekma Ohlone tribe's assertion that they have lived in the area for over 2,500 years. The research found a thread of continuity between ancient genomes and modern-day Muwekma Ohlone people, affirming their ancestral connection to the San Francisco Bay Area.
Researchers mapped the Australian black tiger prawn genome to improve farming productivity and disease resistance. The study also uncovered a unique Endogenous Viral Element (EVE) that helps fight viral infections in prawns.
Researchers developed a new genomic technology to analyze DNA, RNA and chromatin from a single cell, providing a comprehensive database for better understanding of brain diseases. The technology helped identify 63 cell types in the human frontal cortex region.
Scientists developed a novel approach to securely share and analyze genomic data, enabling a more nuanced understanding of heritable diseases like cancer. This 'federated analysis' method allows researchers to analyze large amounts of genomic and clinical data without compromising patient privacy.
Research shows that asexual reproduction in stick insects, such as parthenogenesis, reduces genetic variability and slows down adaptation to environmental changes. This negatively impacts the speed of adaptation and genetic diversity in these insects.
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.
The genome of Steller's sea cow reveals genes that may have played a role in its adaptation to cold marine environments, similar to those found in humans with the skin disease ichthyosis. The study also found similarities between Steller's sea cows and cetaceans in certain genes involved in energy metabolism.
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 recent study found that many marine invertebrates, including sponges and jellyfish, retain the same chromosomal structure as their primitive ancestors over 600 million years ago. This discovery underscores the conservatism of evolution and provides a key link between humans and our distant ancestors.
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.
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.
A new genomics study has helped guide the development of vaccines against Shigella, a leading cause of severe diarrhoea in children. The research revealed the extent of genomic diversity among Shigella species, highlighting challenges to current vaccine approaches.
A new analysis links genetic variants associated with high blood levels of lipoprotein A to a higher risk of prostate cancer, including advanced or early-age-onset cases. The study found no significant associations for other blood lipids.
Researchers found that sunflowers with larger UV bullseyes retain water more efficiently in drier environments, suggesting a dual role for floral pigmentation in adaptation. The discovery may help increase crop yields and improve pollinator attraction.
A new cloud-based platform called AnVIL grants easy access to one of the world's largest genomics databases, providing thousands of analysis tools and over 300,000 genomes. Researchers can now collaborate effortlessly, without the need for massive data downloads, and make exciting new discoveries
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.
A team of evolutionary biologists and botanists found that the spoonweed genus, which emerged as a cold specialist during the Ice Age, repeatedly adapted to rapidly alternating cold and warm periods. The researchers identified physiological adaptations to drought and salt stress that helped the plants develop high tolerance to cold.
The MDI Biological Laboratory has been awarded a grant to promote cloud computing among researchers in Maine, aiming to level the playing field by providing access to sophisticated computing resources. The program will provide training on Google Cloud Platform and assist institutions in implementing cloud computing services.
Researchers at the University of Missouri have developed a free online resource that speeds up data analysis of human genomes three times faster than current methods. This enables scientists to see how an individual's genome makes them susceptible to different diseases in different ways, ultimately reducing associated costs and increas...
The study used multigene sequencing to identify genomic alterations in patients with metastatic breast cancer. Patients with genomic alterations ranked as ESCAT I/II saw improved progression-free survival with targeted therapies matched to their genomic changes, while those without these alterations did not benefit from the treatment.
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 scientists at Mount Sinai highlights the role of rare genomic differences in obsessive-compulsive disorder (OCD) risk. The research found that about 10% of the risk for OCD is attributed to rare genomic variations, which were not seen in previous studies.
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 analyzed the genome of 300 individuals from 15 Mexican ethnic groups to understand their evolutionary histories and adaptability to global changes. The study found that Native Mexican peoples have biological characteristics influenced by their complex history, including susceptibility to certain diseases.