Researchers at the University of Arizona used a state-of-the-art DNA sequencing technique to determine the genetic mutations causing severe epilepsies in seven out of ten previously undiagnosed children. The study found 15 mutations in nine children, seven of which are known or likely to cause epilepsy.
The coelacanth genome provides valuable clues for biologists studying the evolution of vertebrates, with key genes involved in immunity, nitrogen excretion, and limb development implicated in evolutionary transitions. The study offers a comprehensive look at the coelacanth's place in our evolutionary history.
A team reconstructed the genome sequence of a Shiga-toxigenic E. coli outbreak strain using direct DNA sequencing from clinical specimens. The approach highlights the potential of metagenomics for identifying bacterial pathogens in outbreaks.
Researchers found genes in turtles that become more active in low-oxygen conditions, including one 130 times more active than in humans, which may improve oxygen-deprivation treatment. Turtles' long lifespan may come from silencing 'life-shortening' genes, similar to those present in humans.
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Researchers used metagenomics to reconstruct genome sequence of Shiga-toxigenic E. coli outbreak strain, identifying pathogens without laboratory culture. The approach showed potential for rapid identification and characterization of bacterial pathogens in clinical specimens.
A team of SFU researchers has created a sequencing of the mountain pine beetle's genome, revealing large variations among individuals. The genome data will help scientists understand how the beetle causes damage and potentially stop its spread.
The western painted turtle genome shows a slow evolution rate compared to humans and pythons, with 19 brain genes and 23 heart genes expressed in low oxygen conditions. The study reveals potential insights into human health disorders related to anoxia and hypothermia.
The mountain pine beetle's genome has been sequenced, revealing genes involved in tree colonization and potential sex chromosomes. This knowledge could help develop more effective control methods for this devastating pest.
The complete genomes of three aye-aye lemur populations in Madagascar have been sequenced, revealing genetic diversity and historical separation. The research aims to prioritize conservation efforts for these critically endangered species, which are threatened by habitat loss and fragmentation.
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The mountain pine beetle genome has been sequenced to understand its behavior and adaptability, revealing large genetic variation among individuals. The study also identified genes involved in detoxifying defense compounds and degrading plant cell walls, which could inform future management strategies.
Whole genome sequencing reveals that drug-resistant bacterial infections can be transmitted from animals to humans, highlighting the role of livestock as a potential reservoir of antibiotic-resistant bacteria. The study confirms animal-to-human transmission of MRSA, a disease-causing bacterium with resistance to methicillin.
Scientists have sequenced and analyzed three lemur populations to guide conservation efforts, revealing significant genetic distance between northern and eastern aye-ayes. The study also compared human and lemur genetic diversity, suggesting the aye-ayes were separated for an extended period by geographic barriers.
The peach genome offers a unique model for studying genes related to poplar trees, which could lead to improved biofuel crops. By analyzing the genetic makeup of peaches, researchers hope to develop methods for increasing plant biomass yield and improving sustainability.
Researchers mapped protein structures and organisms onto a timeline, revealing an 'hourglass' pattern where proteins folded faster over time. This discovery sheds light on the evolutionary drivers behind protein folding and has implications for understanding molecular functions, genetic engineering, and synthetic biology.
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A team of scientists at EMBL has discovered how the genome is controlled by a series of multiple, interdependent regulatory elements. These elements are clustered together and control specific genes like Fgf8, which is crucial for limb growth and brain development.
Researchers sequenced primitively eusocial wasps' transcriptomes, finding workers have an active genetic profile while queens have a restricted one. This discovery sheds light on the evolution of sociality and the origin of alternative phenotypes.
The precise determination of genomic information is hindered by a lack of understanding of sequence variations. Interdisciplinary teams are needed to address the substantial uncertainty in interpreting genomic data for better application.
A study published in PLOS Medicine found that whole genome sequencing is more effective at tracing TB outbreaks than standard genotyping tests. The new test revealed that first outbreak isolates were falsely clustered by classical genotyping, providing valuable insights into the evolution of M. tuberculosis.
Plant biologists can now sequence hundreds of complete chloroplast genomes simultaneously, facilitating studies on molecular biology and evolution. This breakthrough allows researchers to reconstruct evolutionary relationships and diversifications with unprecedented precision.
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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.
A team of genome and computer scientists developed an algorithm that can rapidly create virtual chromosomes using NGS data. The new RACA (Reference-Assisted Chromosome Assembly) algorithm performs even better with longer DNA reads, addressing the challenge of assembling complete chromosomes from short NGS fragments.
The US Department of Agriculture is working on a biocontrol method for the brown marmorated stink bug, which has caused significant damage in homes and gardens. Researchers have identified an aggregation pheromone that attracts males, females, and nymphs to feeding sites.
Scientists have identified a rare form of active 'jumping genes' in mammals, specifically in bats. This discovery opens up new avenues for studying evolution and developing tools for gene therapy.
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The first high-quality reference genome of the domestic goat has been successfully assembled using OpGen's ARGUS Whole Genome Mapping System in combination with next-generation sequencing. The study demonstrates the efficiency and cost-effectiveness of this technology for large, complex genomes.
A study found that autism genes are more prone to mutation hotspots, contributing to disease risk. The researchers used whole-genome sequencing on monozygotic twins with autism and their parents, identifying clusters of nucleotide substitutions in specific parts of the genome.
Researchers found a significant association between regional hypermutability and autism in monozygotic twins. The study also discovered that paternal age accounts for a substantial portion of variability in mutation rates, while maternal age has no significant effect.
A recent study published in Genome Biology analyzed Clostridium difficile genomes from 486 patients to investigate transmission. The results indicate that transmission between patients occurs at relatively low frequency, with most cases attributed to specific strains.
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Researchers have identified numerous new genes associated with autism spectrum disorder using high-throughput sequencing technology. This discovery confirms that the genetic origins of autism are complex and may involve hundreds of mutations.
The DOE JGI has sequenced the simplest cotton genome, Gossypium raimondii, to improve fiber composition and increase biofuels production. This data will help researchers accelerate gene function studies, particularly cellulose biosynthesis.
The genomes of leeches, limpets and marine worms have revealed a deep connection between these diverse organisms, with similarities to humans and other animals. The analysis has also highlighted notable differences in immune systems and developmental processes.
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Researchers at the University of Warwick have identified hundreds of conserved non-coding sequences in the DNA of papaya, poplar, Arabidopsis, and grape species. These sequences are believed to play a crucial role in controlling gene expression and could help scientists develop crops with specific properties, such as drought tolerance.
Researchers at Kansas State University have developed a new method for prioritizing genes in plant genomes, which has been shown to improve the likelihood of finding critical genes controlling traits such as drought tolerance and grain yield. By applying genetic-analysis methods used to study humans, scientists were able to identify a ...
Scientists have unlocked key components of the genetic code of bread wheat, providing a strong foundation for accelerating wheat improvement through advanced molecular breeding and genetic engineering. The analysis enables breeders to select plants with desirable combinations of genes using genetic landmarks in the wheat genome.
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Two tiny algae, Bigelowellia natans and Guillardia theta, have complex genomes with unique genes and alternative splicing, challenging the paradigm that complex splicing is limited to multicellular organisms. The study sheds light on photosynthesis as a dynamic property and provides insights into eukaryotic evolution.
A novel coronavirus most closely related to viruses found in bats has been identified, prompting concern over potential human transmission. The virus is believed to have originated from an animal source, with similarities to viruses isolated from Asian and European bat species.
Scientists at Queen Mary University of London have sequenced the genetic code of a dwarf birch tree, a species crucial to British conservation. The decoded genome will aid in understanding disease resistance and growth shape, helping protect against the bronze birch borer pest threatening UK birch populations.
Dr. Robert Green's project to explore genome sequencing of newborns won the $100,000 BRIght Futures Prize after six weeks of public voting. The project aims to determine if DNA sequencing of newborns would be perceived as useful to new parents and integrate genomic information into medical care.
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The pear genome sequence offers a valuable resource for breeding improvement and studying evolutionary history, with similarities to apple and strawberry genomes. The sequence reveals diverse genetic information, including repetitive sequences and transposable elements, shedding light on the crop's unique characteristics.
The study reveals that disparate chromosome structures, rather than separate gene adaptations, underlie the separation of the two flycatcher species. Genome sequencing and analysis identified specific regions in the chromosomes involved in meiosis and gender cell production as key to understanding species divergence.
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.
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A review by Northeastern University physicist Meni Wanunu questions the feasibility of nanopore technology for fast and affordable genome sequencing. The main technical hurdles include slow process rates, protein pore limitations, spectroscopic information gaps, and clogging issues.
A high-resolution draft of the barley genome has been published, revealing insights into its genetic makeup and potential for improvement. The sequence data will aid in breeding more resilient crops that can withstand climate change and disease, benefiting the £20 billion UK beer industry.
A University of Minnesota scientist contributed to a landmark study mapping the barley genome, providing valuable tools for improving crop yields, resistance to pests and diseases, and nutritional value. The research will accelerate breeding efforts to help barley adapt to climate change, making it more resistant to drought and efficie...
Researchers have identified multiple genes that contribute to soybean resistance against the soybean cyst nematode, which causes hundreds of millions of dollars' worth of damage each year. By understanding how these genes interact and regulate expression, scientists may develop new methods for engineering artificial stronger resistance.
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Children's Mercy researchers developed STAT-Seq, a 50-hour whole genome sequencing approach, to diagnose critically ill infants. The technology could reduce hospitalization and costs by quickly identifying genetic diseases, with potential benefits for up to one-third of NICU patients.
Biologists at Ruhr-Universität used a combination of laser microdissection and RNA-seq to analyze gene activity in the entire genome of certain fungi. They found that gene expression differs between tissue types, with some genes active only in specific tissues.
A genomic sequencing project funded by community donations has published the first sequence of the critically endangered Puerto Rican Parrot. The project, led by Dr. Taras Oleksyk, covers nearly 76% of the parrot's genome and has found similarities to zebra finches and chickens.
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The University of New Hampshire will receive two new instruments, a DNA sequencer and a computer cluster, to advance its genome studies and space science research. The new equipment will enable researchers to study emerging diseases, environmental changes, and space weather with greater precision.
Researchers have discovered that the malaria-causing parasite Plasmodium vivax shares the same genetic variations despite being found on different continents. The sequencing of its genome could help understand how the parasite lives and causes malaria, and may lead to new treatments for drug-resistant strains.
A team of neuroscientists discovered a signature of disease that may help explain the relationship between transposons and neurodegenerative disorders. They found that TDP-43 normally functions to silence or repress potentially harmful transposons, but when its function is compromised, these elements become overexpressed.
A deadly outbreak of antibiotic-resistant bacteria at NIH's Clinical Center was quelled through collaboration with genomic experts. Genome sequencing revealed the outbreak had a single source, and targeted interventions stopped its spread.
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A novel arenavirus has been identified as the possible cause of inclusion body disease in snakes, a devastating illness that spreads easily among boas and pythons in captivity. The discovery may lead to the development of diagnostic tools and treatments to eradicate the disease from snake collections worldwide.
A new study on malaria genomes reveals significant genetic diversity in Plasmodium vivax, a species of malaria that affects humans outside Africa, making it adept at evading drugs and vaccines. The research also sequenced the genome of Plasmodium cynomolgi, a close relative that infects Asian monkeys.
A team of citizen scientists, led by Dr Andy Grierson, analyzed human genome data to identify new clues on the Y chromosome, revealing a detailed family tree for Western European men. This community-led approach has the potential to facilitate rapid progress in understanding historical human migrations and paternal lineages.
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A new DNA study provides clues about the species' evolution, suggesting that climate change and genetic exchange with brown bears helped create the polar bear as we know it today. The research found evidence of fluctuating population sizes over the past million years, growing during cooling periods and shrinking in warmer times.
A new technique links agronomic traits in crops with active genomic regions, identifying expressed genes. This allows plant breeders to develop markers based on these genes, accelerating breeding through marker-assisted selection.
Belgian scientists have developed a simple assay to track 'superparasites', a type of Leishmania parasite that causes deadly visceral leishmaniasis. This breakthrough could help monitor the spread and emergence of these drug-resistant microbes, contributing to better control of the disease.
Researchers at Stanford University School of Medicine have successfully sequenced a fetus's genome using only a maternal blood sample. The new approach, published in Nature, has significant implications for prenatal diagnosis and could bring genetic testing one step closer to routine clinical use.
The melon genome consists of 450 million base pairs and 27,427 genes, with seven varieties sequenced. Key findings include genes related to disease resistance and the ripening process, offering potential for improving crop yields and quality.
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Researchers have successfully sequenced the parrot genome using single molecule sequencing, allowing for a better understanding of the genetic mechanisms behind vocal learning. The breakthrough could lead to insights into speech development in humans and the study of cancer and brain functions.