Articles tagged with Genome Sequencing
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.
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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 Canadian-led study has identified genes that may be partially responsible for the development of cerebral palsy. The research found that over 11% of children with CP have a genetic variant or likely genetic variant, highlighting the need for personalized treatment approaches.
Researchers have developed a cost-effective approach for identifying L. pneumophila using whole genome sequencing, which can analyze available specimens without culturing. This method has already been used to identify the source of deadly Legionnaires' disease outbreaks, including a 2015 outbreak in New York City.
Female Diadem butterflies have evolved colours and patterns that closely match those of toxic African Queens, making them appear toxic to predators. This convergent evolution allows the Diadems to avoid being eaten by birds and other predators.
A collaboration between students and scientists has successfully sequenced the pear genome, providing valuable resources for pear breeding efforts. The initiative, ACTG, is disrupting traditional academic models by offering students a unique entry point into genomic research.
Researchers studied Prorocentrum cordatum to understand its molecular processes, revealing a unique photosynthetic machinery that may help it adapt to changing light conditions. The findings could lead to improved understanding of harmful algal blooms and their role in climate change.
A new genetic marker for cardiomyopathy has been identified through whole genome sequencing, suggesting that tandem repeat expansions may cause four percent of cases. This discovery provides a promising lead for early detection and the development of precision therapies.
Researchers found duplicated antibiotic resistance genes in bacteria from environments with higher antibiotic use, increasing the likelihood of evolution and resistance to new treatments. The study suggests using antibiotics more efficiently could address the growing antibiotic resistance crisis.
Researchers found that ancient retroviruses are essential for myelin production in mammals, amphibians, and fish. The gene sequence RetroMyelin is likely a result of ancient viral infection, and its presence is necessary for myelination to occur.
Scientists have successfully replicated QS-21, a potent vaccine adjuvant, in an alternative plant host for the first time. This breakthrough enables the production of this highly valued compound in a more sustainable manner.
A new study reveals that genotyping technology detects Covid variants almost a week faster than traditional whole genome sequencing methods. This technique allowed for the rapid detection of Covid variant information, enabling local control measures such as contact tracing to be implemented more quickly.
Researchers have sequenced 52 Psilocybe specimens, including 39 species previously unsequenced, to understand the evolution of psychoactive psilocybin production. The study reveals two distinct gene orders within the psilocybin-producing gene cluster, suggesting an ancient split in the genus.
Researchers at Tokyo Medical and Dental University characterize myeloid/natural killer (NK) cell precursor acute leukemia (MNKPL) using multiomics approaches, revealing distinct molecular features. This work provides crucial details for accurate diagnoses and therapeutic decisions.
A team of scientists sequenced the full genome of a sea cucumber collected at a hydrothermal vent, revealing expanded gene families involved in DNA repair and iron metabolism. The research provides valuable insights into the unique adaptations of marine animals to survive in extreme environments.
Researchers from the Smithsonian National Museum of Natural History analyzed a 160-year-old woolly dog pelt to determine its genetic makeup. The study found that woolly dogs diverged from other breeds up to 5,000 years ago and were genetically similar to pre-colonial dogs from Newfoundland and British Columbia.
The review highlights Brazil's importance in global sustainability efforts, with the country having twice as many articles on sugarcane as the US. Genetic engineering techniques need improvement to increase ethanol production while minimizing crop expansion. CRISPR-Cas9 gene editing is a promising approach for precise modifications.
A team of scientists developed a technique to rapidly detect genetic changes in malaria parasites using portable MinION sequencers. They demonstrated the first end-to-end, real-time pathogen monitoring from clinical blood samples in rural, resource-limited malaria hotspots.
Researchers found that rare gene variants associated with inflammatory bowel disease (IBD) are less prevalent in African Americans, suggesting a different genetic contribution to the disease. The study highlights the importance of considering genetic diversity and admixture in IBD research.
Researchers discovered a bitter taste receptor in sharks, similar to the one found in humans. This finding provides insights into the evolution of bitter taste perception, dating back around 500 million years.
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
Researchers sequenced skin samples from people with psoriasis and found minimal differences in mutation types between affected and unaffected skin tissue. Driver mutations were identified, but their impact on the development of psoriasis is unclear.
Researchers improved biomass-related traits in sheepgrass using a custom genome editing system, revealing its potential for rapid genomic breeding. The study increased understanding of sheepgrass genomics and established a precedent for its genetic improvement.
A genome study of over 600 carrot types finds that recessive genes controlling orange carotenoids are essential for the vegetable's orange color. The study also sheds light on carrot domestication in Western Asia and Europe during the Middle Ages and Renaissance periods, respectively.
Researchers have sequenced the genomes of Scaphopoda, a rare and understudied mollusk group. The study provides new insights into early Molluscan evolution, resolving a long-standing debate on the phylogenetic placement of Scaphopoda.
A Pittsburgh-based surveillance system detected a drug-resistant Pseudomonas aeruginosa infection linked to artificial tears months before the national public health alert. The findings demonstrate the effectiveness of whole genome sequencing-based surveillance in detecting outbreaks and preventing nationwide cases.
A team of University of Connecticut undergraduates has published the first full map of the butternut's DNA, a process that could help conserve endangered species. The project is part of an ambitious effort to sequence the DNA of overlooked organisms, including deep-sea corals and critically endangered birds.
Australian researchers analyzed over 1,300 Golden staph strains, linking specific genes to antibiotic resistance and the bacteria's ability to linger in the bloodstream. The study highlights the diagnostic power of integrating clinical and genomic data to develop targeted solutions for deadly superbug infections.
Researchers sequenced genomes of key cultivated and wild pepper species to identify genes associated with critical traits like fruit shape, flavor, and stress responses. The study provides valuable genomic resources for future functional studies and breeding efforts.
A new study has shed light on the origins of St Helena's 'liberated' Africans, who were brought to the island between 1840 and 1867. The research reveals that they most likely originated from areas between northern Angola and Gabon in West Central Africa.
Implementing whole genome sequencing (WGS) can prevent bacterial healthcare-associated infections, saving the NHS £480 million annually. The technology has major implications for health policymakers and healthcare leaders, with potential benefits including reduced antimicrobial resistance.
The team successfully completed the sequencing of the Y chromosome using long-read sequencing technology and innovative computational assembly methods. This achievement adds 41 additional protein-coding genes and provides crucial insight into reproduction, evolution, and population change.
A new study reveals that Ötzi had a Mediterranean-European skin tone and little to no Eastern European ancestry. His hair was likely sparse, with a predisposition to baldness. The research team used advanced sequencing technology to analyze Ötzi's genome, which has more Anatolian farmer ancestry than any of his European contemporaries.
Researchers from four countries sequenced genomes of 100 infants with unexplained seizures to better understand the potential strengths of early genome sequencing for infantile epilepsy. The study found that 43% received a diagnosis within weeks, and this impacted prognosis in nearly 90% of cases.
A research group at Kyoto University has successfully developed a self-fertile buckwheat variety and a new type of the crop with a sticky texture. This breakthrough could contribute to the efficient breeding of less-common orphan crops, addressing the world's growing food demands.
Researchers at the University of Missouri have developed a new method using nanopores to advance discoveries in neuroscience and medical applications. The technique allows for real-time detection of dynamic aptamer-small molecule interactions, which can aid in understanding DNA and RNA diseases and drug discovery.
Research by the Peter Doherty Institute found that inflammation alters plasma composition, hindering parasite maturation. This work reveals a new mechanism slowing down malaria parasite development in the bloodstream.
Researchers sequenced einkorn wheat's genome, tracing its evolutionary history and identifying resilient properties that can be reintroduced into modern bread wheat. The study's findings provide insight into human migration and settlement, as well as potential solutions to protect the world's food supply.
Biologists argue that building on genomic sequencing momentum is critical in society's response to future pandemics. The technology improved during the COVID-19 pandemic, but gaps remain in global infrastructure and data sharing.
A new national study found whole genome sequencing to be nearly twice as effective as a targeted gene sequencing test at identifying genetic disorders in newborns and infants. The targeted panel missed 40% of diagnoses that WGS captured, while also revealing 134 new genetic diagnoses.
Professor Coppedè's appointment aims to enhance the journal's focus on cutting-edge genomics research, covering topics like genome sequencing and functional genomics. He will lead Current Genomics to greater success by staying at the forefront of genomics discoveries and advancements.
Researchers at Hokkaido University unveil unprecedented carrier protein-mediated ring-forming step in actinopyridazone biosynthesis. The dihydropyridazinone ring is formed through a novel machinery involving Apy3, Apy4, and Apy6 proteins.
A study by Professor Tongming Yin's team reveals the proposed role of MSL-lncRNAs in causing sex lability of female poplars. The researchers detected multiple cis-activating elements in the MSL gene, which generated long non-coding RNAs promoting maleness and leading to female lability.
A new study from the University of Illinois reveals a wealth of untapped diversity in popcorn's genetic code, with over 308,000 variations across the genome. The research may help improve the agronomic performance of the crop and uncover its long history of movement across North America.
Researchers confirm Bachman's warbler as a distinct species by sequencing its genome from museum specimens. The study reveals a new candidate gene involved in feather pigmentation in the group. Comparing the genomes of the extinct warbler with living sister species highlights the crucial role of museum collections in science.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
A biologist at Binghamton University has developed a new method to uncover the parent species of hybrid plants and animals. By examining genomic patterns within these hybrids, researchers can identify distinct ancestries and determine the order in which chromosomes were inherited from their progenitor species.
Researchers found that giraffes on either side of the rift have not interbred for over 1,000 years, with females showing no signs of migration. The study suggests that Masai giraffes are more endangered than previously thought, requiring separate but coordinated conservation efforts.
International researchers have identified nutrient-rich black rice varieties with improved agronomic traits, including shorter stem length and early maturity. These findings provide important resources for crop bioengineers to improve pigmented rice for human health and sustainable agriculture.
CHOP researchers used deep sequencing to discover several previously undescribed genetic variants in vascular anomalies, capturing low-frequency mutations that were missed by conventional methods. The study found significant improvements in symptoms for over 63% of patients, enabling targeted therapies and improved quality of life.
A recent study has identified the specific gut bacteria that pose a threat to neonatal babies, particularly those with necrotising enterocolitis. Researchers analyzed genomic similarities in Clostridium perfringens and found a set of strains with lower disease-causing capacity, lacking genes responsible for toxin production.
Researchers have cloned the wheat rust resistance genes Lr9 and Sr43, revealing that they encode unusual kinase fusion proteins. This breakthrough enables new options for addressing disease resistance in bread wheat and could lead to heat-resistant versions of the Sr43 gene to adapt to climate change.
Three Amazonian Morpho butterfly species have been sequenced for the first time, revealing genetic differences that maintain reproductive isolation despite sympatry. The study found Z-chromosome rearrangements and genetic divergence among gene copies, suggesting a role in speciation.
Researchers at Michigan State University have created the first annotated Montmorency tart cherry genome, revealing the genetic code behind its complex structure. The discovery provides a foundation for studying bloom time and identifying genes associated with specific fruit traits.
A cutting-edge study in Mozambique found that the beta variant of SARS-CoV-2 was transmitted through regional migration from South Africa, while the delta variant entered mainly from the UK and India. The analysis also revealed that most introductions did not contribute to local spread.
Researchers at York University found more pathogens and parasites in urban bee populations, leading to inbreeding and reduced genetic diversity. Conservation efforts focused on green spaces and habitat connectors can help mitigate these effects.
Two NYGC research teams have been selected as grant recipients under the NIH Common Fund SMaHT Network. The first team will generate a high-quality somatic variant catalog leveraging three core sequencing assays, while the second team will develop innovative tools for studying somatic mosaicism using a single-cell multi-omics approach.
A new study led by Mass General Brigham researchers found that 88% of rare disease experts agree on the benefits of genomic sequencing in newborn screening. The experts recommended screening for over 600 genetic conditions, including those associated with hemophilia and retinoblastoma.
Researchers have identified 11 somatic mutations in the RAS/MAPK pathway that contribute to treatment-resistant adult epilepsy, suggesting the potential for repurposed anti-cancer agents as new treatments. This study provides insight into the genetic mechanisms underlying this form of epilepsy and opens up new avenues for targeted ther...
Researchers have identified mechanisms behind the emergence of new and contagious coronavirus variants by analyzing over three million genome sequences. The study found that concordant substitutions occurring at other sites influence the likelihood of a substitution occurring at a specific site, leading to unexpected variant emergence.
A climate-resilient bean genome unveiled potential to boost food security in drought-prone regions through improved genetic diversity and productivity. The sequencing of the hyacinth bean provides opportunities for targeted breeding to reduce anti-nutritional properties and increase its cultivation.
Scientists have found a rare yeast pathogen, Lodderomyces elongisporus, causing neonatal outbreaks in India despite strong disinfectant bleach. The fungus is rapidly evolving and has been linked to hospital equipment and apples treated with fungicides.