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.
The Global Alliance for Genomics and Health (GA4GH) has released three new interoperability standards: Beacon API, refget API, and Workflow Execution Service (WES) API. These standards address variant discovery, patient case discovery, reference sequence harmonization, and cloud computing to enable responsible genomic data sharing.
A study on Asian ladybird beetles reveals a single gene, pannier, that regulates diverse color patterns. The gene's expression affects black and red pigmentation in the forewing, driving morphological evolution.
A team of researchers has successfully sequenced the genomes of 25 ancient individuals from Southeast Asia, revealing six distinct population groups. The findings suggest that prehistoric populations in the region had higher genetic affinities with present-day Japanese and were influenced by language-speaking groups such as Austronesians.
A research group led by Professor Andrei Kozlov has identified a key genetic bottleneck effect that could help design an HIV vaccine. By analyzing blood samples from injecting drug users with early stages of HIV infection, scientists discovered that all viruses share a common ancestor.
Researchers evaluated Stanford University's work on the tiny mummified body, concluding genetic abnormalities could explain perceived abnormalities. However, Otago-led experts found no evidence for these anomalies, revealing normal skeletal development in a fetus.
Professor Stephen Robertson's research team identified the cause of Recessive Spondylocarpotarsal Synostosis Syndrome, a condition resulting in bone fusion. Genome sequencing revealed multiple genes implicated in the disorder, offering diagnostic and therapeutic options.
A recent study published in the journal Genetics found that the fungus Trichophyton rubrum exhibits asexual reproduction as its primary method of reproduction. The research suggests that mating between individuals is rare and requires highly specific conditions, resulting in low genetic variability within the population.
A recent study by researchers at the University of Arizona has found no evidence of domestic dog ancestry in the Mexican wolf population. The analysis of 87 Mexican wolves using genomic technology revealed a low percentage of genetic similarity with domestic dogs, suggesting that the species is genetically pure.
Researchers developed a computational framework to analyze large-scale single-cell gene expression levels, enabling the study of unprecedented cellular heterogeneity in rare cell populations. The BigSCale tool successfully processed 1.3 million individual cells from a mouse brain dataset.
Genomic analyses of fossil remains from 5th and 6th century AD sites in southern Germany uncover evidence of female-biased immigration in Early Medieval Bavaria. Women with artificial cranial deformation (ACD) show predominantly Southeast European ancestry, while one individual exhibits East Asian genetic markers.
A genomic study of ancient and modern horses reveals that the Botai horses, who lived on Central Asian steppes 5,500 years ago, did not contribute to the modern domesticated horse population. However, seven Przewalski's horses, an endangered feral group, show a connection to the original Botai group.
Researchers at Saarland University have created a software tool called WhatsHap that can analyze which gene variants were inherited from each parent, providing a key breakthrough in understanding genetic inheritance. The technology has the potential to become a routine examination in hospitals, similar to blood group identification.
Ancient African genomes show human populations diverged around 350,000-260,000 years ago. The study analyzed 7 ancient genomes, including a Stone Age hunter-gatherer and Iron Age farmers, finding correlations with fossil records.
Scientists analyzed ancient maize genomes to understand its adoption at high elevations. They found that desirable phenotypes were selected for by high-altitude farmers over thousands of years, rather than being introduced from modern-day Mexico.
Researchers at UNIST have sequenced the whole genome of the Myotis rufoniger, a critically endangered bat species, to understand its genetic basis. The study provides valuable insights into the species' demographic history, genomic diversity, and evolutionary origins.
A recent study utilizing genomic big data analyzed the silver birch genome, uncovering population bottlenecks and speciation events that shaped the species' current form. The research also identified genes under natural selection, which have contributed to birch's cold tolerance and rapid growth.
A new study published in Nature Genetics has identified 389 genetic signals linked to the timing of puberty, including associations with an increased risk of breast, ovary, and endometrial cancers in women, and prostate cancer in men. The research also suggests that earlier puberty timing may have negative effects on later health.
The University of Texas Health Science Center at Houston (UTHealth) is part of a $500 million program to bring whole genome sequencing and other
Researchers compared the genomes of a 45,000-year-old mainland mammoth with one from Wrangel Island, which had only 300 animals. The analysis revealed an excess of genetic defects, including loss of olfactory receptors and urinary proteins. This study provides insights into the effects of small population sizes on genome deterioration.
The KAT tool analyzes K-mer datasets to identify error levels, biases, and contamination in sequencing data. It also checks genome assemblies for completeness and accuracy without external reference data.
Researchers have developed Sequins, synthetic DNA sequences that reflect the human genome, allowing for improved analysis and diagnosis of genetic diseases. The technology provides internal standards to assess the accuracy of genomic data generated during sequencing.
CropQuant uses Raspberry Pi computers to control infield cameras capturing crop growth images, then analyzes data on high-performance computers to link environmental data with crop traits. This enables scientists to reduce farming costs and improve crop yields through field-based phenotyping methods.
A new publication by the Association for Molecular Pathology provides cost and value analysis of gene panels, including non-small cell lung cancer and hearing loss. The study demonstrates economic value in optimizing care for patients with hereditary diseases and cancer through targeted gene panels.
Researchers analyzed the genetic makeup of Zika viruses in Brazil, finding a single introduction date of May-December 2013. The study suggests a correlation between Zika virus and microcephaly cases, but more research is needed to establish causation.
The MEGA7 edition features significant upgrades to speed up data-crunching time and handle larger DNA datasets. This allows researchers to analyze more complex genetic information, driving global evolutionary discoveries.
A Finnish study found that genetic variants associated with musical creativity are linked to specific brain regions, including chromosome 4 and chromosome 18. These findings suggest a biological basis for music composition and arrangement, highlighting the role of multiple genes in creative activities.
The new software, SIFT 4G, accelerates genome analysis by preparing predictions at a much higher speed, reducing processing time from 25 days to just three days on a single GPU. This enables researchers to analyze genomes in five minutes, advancing science and developing technology that can benefit human health.
Researchers analyzed coral genome samples from the Ryukyu Archipelago, revealing 4 distinct groups corresponding to geographical locations. The findings suggest that coral populations repopulated themselves after 1998 bleaching, contradicting previous assumptions about long-distance larval migration.
Scientists at the University of Missouri have developed a free online genetic research tool called RNAMiner. The platform allows users to upload genomic data and analyze it through multiple steps, providing results within hours rather than days or months.
Researchers found a 35,000-year-old wolf bone in Siberia that reveals the most recent common ancestor of modern wolves and dogs. The discovery sheds light on the early origins of dog domestication, with implications for our understanding of human-wolf relationships.
A genome-wide study identifies the Ainu people as direct descendants of indigenous Jomon, supporting a hybridization model for Japanese population history. Genetic mixing occurred around 5,000-7,000 years ago, older than previously estimated archaeological records.
A new software pipeline called Churchill can analyze human genomes in as little as 90 minutes, compared to weeks or years with existing technologies. This breakthrough enables rapid diagnosis of genetic diseases and scalable genomic analysis for population studies.
A team from the Broad Institute, UC Berkeley, and UC Santa Cruz was awarded a NCI Cancer Genomics Cloud Pilot contract to build a system enabling large-scale analysis of The Cancer Genome Atlas (TCGA) datasets. The project aims to democratize access to computational tools and facilitate collaboration across the cancer genomics community.
The Center for Big Data in Translational Genomics aims to develop standard protocols and tools for handling genomic data efficiently, enabling the analysis of millions of genomic datasets. The center will test new approaches in four pilot projects, including cancer-related initiatives.
Researchers will develop the KnowEnG tool, integrating multiple analytical methods for intuitive genome-wide data analysis. The center aims to create a powerful computational tool that offers new functional insights for genes being studied.
A recent study reveals that genetic selection has imprinted its signature on the genomes of poplars, a finding that could improve predictive climate change models and tree breeding programs. By analyzing over 1,100 wild poplar trees, researchers identified 397 genomic regions contributing to adaptive traits.
The NIH awards grants for analyzing genome sequence data to identify rare genetic variants that protect against or contribute to Alzheimer's disease. The projects will also explore differences in data from different racial/ethnic groups and examine the association between brain images and genome sequences.
A University of Chicago-based team used Beagle, a powerful supercomputer, to analyze genomic data, significantly accelerating speed and accuracy. The findings have immediate medical applications, enabling rapid diagnosis and treatment of genetic diseases.
Researchers from Baylor College of Medicine and the CHARGE consortium successfully sequenced DNA of over 14,000 individuals using next-generation sequencing. The large-scale cloud-based analysis enables access to an expansive network of genomic data for international collaboration.
Researchers will develop tools to leverage cancer genomics data, enabling clinically useful predictions and comparisons between algorithms. The Biomedical Evidence Graph (BMEG) database will store interpretive information derived from raw sequence data.
The European Society of Human Genetics urges caution on using new genetic sequencing techniques due to potential risks and benefits. The society recommends targeted analysis to limit unsolicited findings, ensuring patients' rights are protected while also providing them with necessary health information.
Researchers at the University of Montreal used genome-wide analysis to identify a previously unknown type of adrenal insufficiency in two children. The treatment regime eliminated the need for fludrocortisone treatment and reduced lifetime risk of hypertension, saving $10,000 per patient.
The Wuzhishan Pig's whole-genome sequence reveals a wealth of genetic tools for studying complex diseases common to humans. The pig's genome contains a large number of similar drug target genes, making it an excellent model for therapeutic drug testing.
The Association for Molecular Pathology report on next-generation sequencing technology addresses current technical, bioinformatic, and clinical implementation considerations. The report aims to improve patient care by exploring the clinical relevance and impact of NGS technologies.
A comprehensive transcriptome analysis of human ENCODE cells reveals widespread RNA transcripts and epigenetic links, assigning biochemical functions to 80% of the human genome. The study provides powerful data sets for delineating functional elements across the human genome.
Researchers used genome-wide array analysis to find that parents of affected children often have previously undetected genetic abnormalities. These abnormalities can increase the risk of having another affected child, and understanding them can help provide better genetic counseling.
Researchers at the University of Hohenheim have developed a new technique to select promising parent plants for corn breeding, allowing for faster development of high-yielding varieties. By analyzing DNA and substance composition, scientists can predict a plant's genetic potency and breeding capabilities, saving time, money, and acreage.
The Galaxy platform is now available as a cloud computing resource, providing researchers with access to powerful computing power and vast data storage capacity. This development enables scientists to perform large-scale DNA analyses without investing in expensive computer infrastructure.
The study improves computational tools for medical interpretation of genomes, enabling disease-risk prediction and personalized medication responses. The research involves a four-person family with a history of blood clotting, allowing for the identification of genetic variants associated with health risks.
A team of scientists used BGI's rapid, bench-top DNA sequencing technology to analyze the deadly E. coli O104:H4 outbreak in Germany, revealing a new model of international collaboration for infectious disease control. The study found that genome sequencing provides the foundation to identify and characterize novel pathogens.
The open-source software, GenPlay, is designed to help biologists visualize, analyze and transform raw genomic data. Biologists can now analyze their own data using a user-friendly tool that provides continuous visual feedback, making it easier to make sense of the avalanche of new data.
RIKEN researchers developed a new gene expression analysis technique called HeliScopeCAGE that can measure gene expression levels using only 100 nanograms of total RNA. This technique reduces biases and generates highly reproducible data, enabling high-precision gene expression analysis from tiny samples.
Genomatix introduces mygenomatix, a cloud-based NGS data analysis service providing fast turnaround times, access to full software content, and biological results. The service addresses the challenge of handling large datasets, offering security, ease of use, and affordability.
A multinational team identified a novel retinal disease gene, FAM161A, linked to RP28-associated recessive retinitis pigmentosa through ChIP-Seq analysis with Genomatix Genome Analyzer. The study provides new insights into visual perception and opens potential therapy avenues.
Researchers from McGill University have discovered that mutations in the SCARF2 gene are responsible for Van Den Ende-Gupta syndrome, an extremely rare genetic disorder characterized by unique head and facial features. The study utilized a high-tech genome analyzing machine to quickly sequence coding portions of the human genome and id...
Researchers reanalyze mitochondrial genome data to reveal new insights into the initial peopling of North America, confirming 15 founding maternal lineages from Beringia. The study's findings suggest that genetic diversity was significantly underestimated in previous estimates.
A powerful new genome barcoding system has revealed large-scale structural variations in the human genome, including variations of thousands to hundreds of thousands of DNA's smallest pieces. This technology allows for a comprehensive view of the human genome and may lead to breakthroughs in disease treatment and personalized genomics.
A large-scale genetic analysis of 17,296 women identified 43 genetic loci contributing to lipoprotein metabolism, providing new insights into the molecular basis of cardiovascular disease. The study also quantifies the contribution of common genetic variation to plasma lipoprotein concentrations.
A special issue of Genome Research explores personal genomics, revealing novel biological insights gained from individual genomes. The study found significant genomic variation between closely related ethnic groups and the role of mobile elements in creating structural variation.
Complete Genomics successfully sequenced a Caucasian HapMap sample, generating 91x average read coverage of the genome in a matter of days. The company's system delivered unprecedented throughput, producing 254 Gigabases (Gb) of mapped data, and demonstrated an average run rate of over 70 billion mapped bases per run.