Articles tagged with Genomics
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 combination therapy that targets the differentiation barrier in AML cells has been identified, showing potential to treat some AML subtypes. The treatment involves activating genes that drive cell differentiation while suppressing those that promote cancer growth.
A new study deciphers ancient DNA from the Green Sahara, providing critical insights into the African Humid Period and its impact on human migration. The research reveals a unique genetic lineage that remained isolated for thousands of years, highlighting North Africa's heritage.
A study published in Biological Psychiatry identified the Shisa7 gene as a key driver of heroin addiction. The research team used machine learning to analyze brain tissue from human opioid users and found that modulating this gene's expression influenced heroin-seeking behavior and cognitive flexibility.
Researchers at City of Hope discovered that mutated cells can persist for years without becoming cancer and require an additional inflammatory push for malignancy to occur. Chronic inflammation is a key trigger for tumor formation, making it essential to avoid situations like high-fat diets and obesity.
The study provides a comprehensive genetic map of the pistachio genome, allowing for the creation of better-nutrition varieties. The research also identifies four key stages of nut growth from flower to harvest, providing insights into shell hardening and kernel growth.
Researchers found that selfish genes use self-assembly properties to harm cells, with aggregate size and distribution being key factors in toxicity. The study also reveals an evolutionary arms race between sabotage and salvation, where rapid evolution of 'selfish' genes can lead to their own destruction.
When DNA is damaged by UV light, cells reorganize their genetic material in 3D space to prioritize repair. This dynamic process involves areas of high-activity DNA regions being prioritized for fix and gene activity changes, triggering emergency response genes.
Researchers discovered that sulfur bacteria from the Desulfobacteraceae family work together like a team to break down diverse organic compounds. By analyzing six strains, they found similar molecular strategies and a highly energy-efficient central metabolism pathway, enabling them to thrive in oxygen-free environments.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Dr. Guy Rouleau, a renowned geneticist and neurologist, has founded the world's first academic institution committed to open science principles. The Neuro institute aims to transform how brain disease research is conducted worldwide by promoting data sharing and collaboration.
Researchers analyzed DNA of 370 individuals from 800 years, revealing genetic ties between Huns and Xiongnu Empire. The study found a small but distinct set of individuals carrying East Asian genetic signatures, suggesting some Hun-period individuals in Europe traced their lineage back to late Xiongnu burials.
New research reveals aldosterone-producing adenomas harbor at least four distinct cell types, including cortisol-producing cells that contribute to unexpected health issues. The study also identifies potential role of lipid-associated macrophages in influencing hormone production and tumor growth.
In Arabidopsis, BMI1s interact with condensin complexes to co-regulate compartment domains and maintain the interactions within them. This interaction is crucial for regulating chromatin 3D structure and gene expression.
Scientists have released new high-quality genome sequences for two critically endangered pangolin species, revealing genetic vulnerabilities and extinction risks. The research provides essential information for rescue operations and focusing on the best ways to conserve these unique animals.
Researchers discovered 47,350 active putative enhancers associated with Parkinson's disease, schizophrenia, and other neurological disorders. These enhancers were found to regulate gene expression during neuronal differentiation.
The reemergence of dengue virus serotype 3 (DENV-3) in Brazil could worsen fresh outbreaks as the population is not immunized against this serotype. Researchers found a rise in DENV-3 cases since late 2023, with 31 blood samples testing positive for the virus.
Researchers developed a powerful tool to detect SARS-CoV-2 variants with high transmission potential, pinpointing exact mutations driving spread. The model focuses on spike protein and other parts of the virus, enhancing ability to bind human cells and evade immune systems.
Researchers identified a unique genetic signature that can predict bacterial antibiotic resistance. The finding could help develop precision-based treatments and reduce overuse of antibiotics.
Researchers developed a method to detect H3K27M-mutant droplets from circulating tumor DNA in cerebrospinal fluid, enabling early diagnosis and treatment of leptomeningeal disease. This approach improved survival rates for patients with diffuse midline gliomas.
A genetic study of burial grounds from the Avar period in Lower Austria found that genes and culture did not have to match. The analysis revealed a high number of relatives among the deceased, reconstructing contemporary six-generation-long pedigrees at each site.
Researchers have identified the pathogens and diagnostic tests for the two diseases, revolutionizing cassava disease management in Latin America, the Caribbean, and Southeast Asia. The study, published in peer-reviewed journals, marks a significant milestone in fighting the spread of these devastating diseases.
Researchers have reconstructed the evolutionary origin of the complex configuration of multiple sex chromosomes in echidnas using their nearly gapless genome sequence. The high-quality data helped trace genetic events that led to this remarkable chromosomal arrangement, including chromosome fusion and fission events.
The study identified 76,077 viral RT sequences from global metagenomes, with a significant proportion derived from the human gut, emphasizing their critical role in maintaining gut microbiota stability. The analysis revealed seven evolutionary clades of viral RTs, including new clades suggesting unexplored functions.
A new study reveals that bacteria species in Lake Mendota rapidly evolve over time, responding to changing seasonal conditions. The researchers found that hundreds of separate species would return almost fully to near copies of their genetic predecessors after a thousand or so generations of evolutionary pressures.
Researchers found that human cells have higher gene expression rates compared to chimpanzees, with 5-10% of genes showing significant differences. Human glial cells, particularly oligodendrocytes, showed the greatest variations in gene expression, suggesting a link to human brain complexity.
Researchers have analyzed ancient DNA from Mexico, Chile, Peru, and Argentina to determine the origin of syphilis. The study found that syphilis-like infections occurred in the Americas for millennia and supports an American origin for the disease.
Researchers analyzed nuclear genomes of ancient European specimens to shed light on the genetics of early Europeans and their interactions with Neandertals. The study reveals a small, isolated group that interbred with Neandertals but left no present-day descendants.
Researchers have unraveled the precise timing and functional legacy of Neandertal gene flow into early modern humans. The study suggests that most non-African individuals harbor one to two percent Neandertal ancestry, with the majority tracing back to a single shared period between 50,000 and 57,000 years ago.
A study by Tulane University researchers found that tumors in female fruit flies grew 2.5 times larger than those in male fruit flies due to sex-based differences in immune response. The stronger innate immune response in females accelerated tumor growth.
Gene expression in cells occurs in short, unpredictable bursts due to transcriptional bursting. Researchers found that the folding and movement of DNA, as well as protein accumulation, changes depending on gene activity, with enhancers playing a crucial role in amplifying gene activity.
Researchers developed a new tool called SigRM to analyze single-cell epitranscriptomics data, enabling the study of RNA modifications in individual cells. This can provide valuable insights into gene regulation and its impact on health and disease, particularly in complex conditions like cancer.
Large language models like GPT-4 can analyze gene sets with high accuracy, identifying common functions and providing detailed narratives to support their findings. This breakthrough has the potential to revolutionize functional genomics research by synthesizing complex information and generating new testable hypotheses.
Children's Hospital of Philadelphia researchers discovered a gene signature that identifies patients with T-ALL at high risk of relapse. The study found a potential therapeutic treatment, venetoclax, which targets specific cells associated with poor outcomes.
Scientists aim to develop a novel genomic approach to taxonomically separate and describe new insect species, addressing the species identification crisis. The 'Genomic Blueprint for Description of Thousands of New Species' project uses rapidly developing DNA technologies to identify unknown species.
This special issue highlights novel applications and developments in long-read sequencing, offering advances in genome assembly and annotation, characterization of complex genomic rearrangements, and full-length mRNA isoform resolution. Long-read technologies are expanding understanding of rare diseases and impacting germline testing.
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.
The study found that DNA packaging sends signals through an unusual pathway, affecting cell division and growth. Chromatin acts as a guide, telling the cell how to read and use the information in the DNA.
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.
A team of biologists at UT Arlington has discovered a new species of gecko, Pseudogonatodes fuscofortunatus, with distinct skeletal features and genetic data. The discovery highlights the unique characteristics of this tiny lizard, found in the Paria Peninsula of Venezuela.
A study analyzing DNA from skeletal remains in Pompeii casts reveals the cosmopolitan origin of the city's inhabitants, contradicting previous physical appearance-based assumptions. Genetic data also sheds light on ancestry, sex, and familial relationships, challenging traditional notions.
Researchers found that AI tools can link genetic variations with diseases like diabetes without considering the complexity of genetics. A new statistical method can reduce false positives, but proxy information studies also introduce misleading correlations, warns Qiongshi Lu.
The study shows an alternating series of interaction and gene flow between inhabitants of mountainous upland regions and steppes to the north of the Caucasus. Innovations in herd management, dairying, and mobility enabled autonomous nomadic lifestyles adapted to exploit the Eurasian steppe zone.
The ASHG 2024 Annual Meeting will showcase the latest research in human genetics and genomics. The event will feature a Presidential Symposium on Mendelian traits and a Distinguished Speakers Symposium on the promise of human genetics and genomics, among other sessions.
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.
Researchers at UC San Diego have developed a faster and more affordable method to study chromatin organization, which influences gene activation and cell function. The droplet Hi-C technique has been successfully deployed to analyze chromatin organization in mouse brain cells and human tumors.
Researchers identified a protein that could improve the cardiovascular health of patients with progeria, a rare genetic disorder. The discovery provides promising insights into potential treatments targeting cardiovascular complications in HGPS.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
This special issue presents a collection of 20 computational methods and their applications in genomics, including spatial, single-cell, and long-read sequencing. Key findings include the development of PRiMeR for disease risk predictors and SF-Relate for identifying genetic relatives across distributed genomic datasets.
The red milkweed beetle's genome has been sequenced, providing insights into how it safely feeds on toxic plants. The study found an apparent expansion of genes related to toxin sequestration and metabolic enzymes.
Researchers analyzed ancient genomes from the Oakhurst rock shelter in southern Africa, finding that the oldest genomes are genetically similar to San and Khoekhoe groups living today. The study reveals a long history of relative genetic stability until around 1,200 years ago when newcomers introduced new cultures and languages.
Scientists developed VenomCap to analyze venom genes in snakes, shedding light on snake evolution and developing effective treatments for deadly snake bites. The technique enables quicker analysis of thousands of venom-making genes, paving the way for improved antivenom development and global public health.
Researchers have identified a new epigenetic mark, 5-formylcytosine, which plays a crucial role in activating genes during early embryonic development. This discovery sheds light on the regulation of gene expression in vertebrates and has implications for our understanding of human development and disease.
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.
A $7M grant is supporting a four-year project to breed wide hybrids of muscadines and Vitis vinifera, combining desirable traits like disease resistance and crisp texture. The goal is to introduce new grape hybrids with enhanced quality leading to a more resilient US grape industry.
A new machine-learning model developed by a University of Arkansas student improves upon existing genotype-by-environmental interaction models, achieving higher prediction accuracy. The model uses feature engineering to process environmental data, leading to a 7% improvement in mean prediction accuracy.
Researchers discovered a non-virulent bacterium, Mycobacterium spongiae, that shares 80% of its genetic material with M. tuberculosis, shedding light on the disease's origins. The study provides valuable insights into the evolution and virulence of TB.
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.
Michigan State University researchers have developed a method for CRISPR-based genome editing in Nile grass rats, which are diurnal rodents with sleep patterns similar to humans. This breakthrough could provide an alternative model for studying human health and disease, as existing models rely heavily on laboratory mice.
Researchers developed a new 'pan-pathogen' deep sequencing approach to capture multiple bacterial strains simultaneously. This method enables faster and more comprehensive tracking of antibiotic-resistant bacteria, potentially preventing and managing common hospital infections quicker.
Researchers have created the first spatial map of malaria infection in the mouse liver using Spatial Transcriptomics and single-cell RNA-sequencing. This discovery sheds light on the parasite's lifecycle, revealing changes in host cell gene expression near infected areas.