Pangenomics is the study of many different genomes from one specific species, providing a holistic picture of natural variation and mutations. A new data structure and compression technique, PanMAN, enables researchers to handle vast genetic data scales by encoding additional biologically relevant information.
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The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
Researchers have discovered that optical genome mapping can reveal hidden causes of pregnancy loss, including chromosomal changes in genes known to be linked to recurrent pregnancy loss. The study found structural changes in the genome that were missed by traditional genetic sequencing methods.
Researchers identified 13 genes linked to obesity across six continental ancestries, including five previously unknown. These genes, expressed in brain and adipose tissue, are associated with increased risk of severe obesity, Type 2 diabetes, and other health problems.
Researchers identified genes associated with breastfeeding disorders and postpartum breast cancer in the mammary gland, revealing potential new targets for investigation. The study provides a detailed atlas of genetic expression for the adult developmental cycle of the mammary gland.
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Colm Nestor's research aims to understand genetic differences in men's and women's health, with potential applications in disease treatment and prevention. His unique approach combines basic research with clinically relevant issues, aiming to uncover new insights into the mysteries of the X chromosome.
A recent study published in Current Neuropharmacology suggests a potential link between Glucagon-like Peptide-1 (GLP1) receptor agonists and depression, particularly in individuals with low dopamine function. The authors urge caution and recommend genetic testing to identify individuals at risk before prescribing these medications.
Researchers at Rutgers University have discovered a way to identify and track material carried by extracellular vesicles, which play a key role in the development of renal diseases like polycystic kidney disease. This breakthrough could lead to new therapies for patients with PKD, a common genetic disorder.
Researchers created a bacterial evolutionary map that tracks plasmid gene exchange and identifies barriers to treatment. The study reveals new insights into the co-evolution of plasmids and E. coli strains, paving the way for targeted therapies against antibiotic-resistant infections.
A novel AI-based method called scNET combines gene expression data with networks of possible gene interactions to identify biological patterns in response to drug treatments. The system reveals complex mechanisms underlying cellular behavior, providing insights for new therapeutic approaches.
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Swedish researchers have identified 20 genetic variants associated with an increased risk of atherosclerosis, a leading cause of cardiovascular disease. The study used advanced imaging techniques to examine millions of genetic variants, providing new insights into the disease process and potential ways to prevent it.
Researchers created a powerful new computational and artificial intelligence tool that can generate high-resolution 3D maps of the brain in mice, allowing users to zoom in and out and peer into the full set of molecules producing energy for brain functions. This breakthrough brings scientists closer to understanding the role of metabol...
Scientists have developed a new chromosome identification system for alfalfa, revealing unexpected chromosomal anomalies such as aneuploidy and large segment deletions. The breakthrough enhances molecular cytogenetics and paves the way for more precise breeding strategies.
A new RNA barcoding method allows researchers to track gene transfer in bacterial communities without disrupting their natural environment. The technique has potential applications in predicting antibiotic resistance outbreaks, engineering microbiomes for pollution cleanup, and programming microbes for specific tasks like producing bio...
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Researchers at Johns Hopkins University have discovered genes that control fruit size in tomatoes and eggplants, opening up opportunities for new varieties and improved agriculture. The study could lead to the development of larger, more nutritious fruits, and has significant potential for global food security.
The discovery challenges our understanding of seaweed in a changing ocean and has implications for predicting its future. The giant clone, found to be a single species with millions of individuals, thrives in low-salinity waters and provides habitat for various marine life.
A global genetic study has discovered new links between predicted height and diseases, including mental disorders and the endocrine system. The research used data from diverse ancestries and found significant associations that could improve early diagnosis and patient care.
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Researchers developed a deep-learning framework, STAIG, to automatically map distinct genetic activity to tissue regions without manual alignment. The study demonstrates superior performance across various conditions, showcasing its potential for cancer research and understanding complex biological systems.
A new species of manzanita has been discovered on the central coast of California, but its survival is already at risk due to urban development. The species, Arctostaphylos nipumu, lacks a protective burl that allows some other manzanitas to resprout after wildfires.
A new study from the University of Pennsylvania School of Medicine has created a comprehensive genetic map of over 1,000 genes influencing kidney function, providing new insights into the causes of kidney disease. The researchers discovered that proximal tubule cells are a key
A comprehensive map of Plasmodium knowlesi genes essential for blood infections has been generated, providing insights into drug resistance and informing the development of new therapeutics. The study identified molecular requirements for parasite growth and pinpointed specific genes causing resistance to current antimalarials.
Researchers mapped yerba mate's genome, discovering an ancestor that duplicated its genome 50 million years ago. This event led to the evolution of caffeine biosynthesis in yerba mate and coffee through convergent pathways. The study provides opportunities for creating plant varieties with new characteristics.
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A new study maps the complete human genome recombination, identifying areas that balance diversity with stability. The research reveals key differences between men and women in recombination patterns, offering insights into infertility, genetic diversity, and disease risk.
Researchers analyzed 7,000 S. aureus samples to identify key genetic changes that enable bacterial survival in humans. The study revealed mutations associated with nitrogen metabolism and immune system evasion strategies.
Researchers have debuted the first comprehensive gene expression atlas of the plant periderm at the single-cell level, providing new insights into phellem cells and their role in carbon storage. The atlas could be used to stimulate growth of the protective periderm in plants facing environmental stress due to climate change.
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Researchers at UCSF have discovered a new type of stem cell in the young brain that can form cells found in tumors, shedding light on how adult brain cells grow and develop into deadly brain cancers. The study provides a comprehensive roadmap for understanding healthy brain development, which could lead to better treatments for conditi...
A joint research group clarifies a key mechanism of how retrotransposons preferentially insert in the centromere. The findings reveal strong integration biases for certain genetic elements, shedding light on rapid genome evolution.
A study by the National Center for Supercomputing Applications aims to create personalized nutrition plans based on an individual's unique gut microbiome. The researchers used Illinois Computes to analyze metabolomic data and develop a database of metabolites that can help diagnose diseases more efficiently.
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A new University of Texas at Arlington study provides a comprehensive genetic map of the common bedbug Cimex lectularius, enhancing scientific investigations into pesticide resistance and developing targeted pest control strategies.
A new study has identified a specific connectivity pattern of brain atrophy in schizophrenia, distinct from brain networks associated with other psychiatric disorders. The findings suggest that this network may be a core characteristic of schizophrenia and could inform treatment plans.
A new study reveals insights into leveraging allele dosages in sweetpotato breeding practices to improve key agricultural traits. Researchers found that differences in allele dosage significantly impact root weight, plant architecture, and flesh color.
Three Texas A&M biologists have received NIH Maximizing Investigators’ Research Awards to support their research on type IV pili, darter fish social behaviors and bacteriophages. Drs Koch, Moran and Ramsey will explore bacterial behavior, genetic mechanisms and neural basis of paternal care in fish.
Researchers developed MoPEDE, a method combining genetic data and brain activity to pinpoint epileptic seizure origins. This approach offers deeper insights into epilepsy mechanisms, potentially leading to personalized treatments.
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A new study from the University of Texas M. D. Anderson Cancer Center found that at least 3% of normal breast tissue cells in healthy women contain chromosome abnormalities associated with invasive breast cancer, which may guide future approaches to early detection.
Piangua populations are experiencing a significant loss of genetic diversity due to intense harvesting, reducing their ability to adapt to environmental challenges. The study reveals subtle genetic variations among local populations, highlighting the need for targeted conservation strategies.
Researchers tracked the long-term dynamics of transplanted stem cells in patients' bodies up to three decades post-transplant. They found that younger donors produce more vital stem cells, while older donors experience reduced immunity and higher relapse risk. The study provides new insights into donor selection and transplant success.
A new genetic analysis method called Genomic Informational Theory (GIFT) has been developed to extract more precise data than previously used methods. GIFT is capable of analyzing large datasets and extracting novel information that was previously unavailable through genome-wide association studies (GWASs).
A recent study published in Cell reveals that nearly one in six disease-causing mutations leads to proteins mislocalizing within the cell. The research team developed a high-throughput imaging platform to assess protein location and found that breakdowns in protein stability are a major driver of misplaced proteins.
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A new study published in Science reveals that the salivary amylase gene (AMY1) may have first duplicated more than 800,000 years ago, seeding genetic variation that shapes human digestion of starchy foods. This early duplication allowed for increased starch-digesting efficiency and may have played a role in human adaptation to new diets.
Researchers at U of T have discovered that C2H2 zinc finger proteins, which primarily bind to DNA, also regulate RNA processing through various mechanisms. These proteins modify mRNA, controlling its length and altering it after transcription.
A new study finds that the gene for starch-digesting saliva may have first duplicated more than 800,000 years ago, seeding genetic variation that shapes modern diet. This early duplication set the stage for significant variation in the amylase region, allowing humans to adapt to shifting diets with increasing starch consumption.
Researchers have decoded the genetic makeup of 'Samantha' rose variety to create a powerful resource for future comparative genomic studies. The study found that human selection has significantly influenced the genetic diversity of modern roses, but preserving genetic traits is essential for their health and adaptability.
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Researchers found Vikings traveled extensively for walrus ivory, covering 6,000 km, including interactions with indigenous Arctic populations.
Researchers at Cold Spring Harbor Laboratory create a roadmap of how prostate cancer spreads throughout the body, showing that aggressive cells seed cancer's rare migrations to bones, liver, lungs, and lymph nodes. The new technology offers a clearer picture of cancer spread and could lead to more targeted therapeutics.
Researchers identified over 3,000 harmful genetic changes in the RAD51C gene that increase ovarian cancer risk six-fold and breast cancer risk four-fold. These findings can help doctors and diagnostic laboratory scientists better assess cancer risk and provide more personalized care.
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.
Researchers at Uppsala University studied Northern krill and found extensive genetic variation critical for adaptation to different climates. The study identified hundreds of genes associated with heat and cold sensitivity, nutrient uptake, and reproduction.
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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.
Researchers sequenced the complete genomes of Lyme disease bacteria representing all 23 known species, tracing the origins back millions of years. The study provides valuable tools and insights for combating the rising public health threat of Lyme disease.
A study by the Open Wild Wheat Consortium explains how Aegilops tauschii, a wild grass, contributed to the genetic diversity of bread wheat, enabling its rapid spread across different climates. This hybridization event allowed humans to settle down and form societies.
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A comprehensive set of genomic resources for Tausch's goatgrass has been established, shedding light on the evolutionary genetics of wheat. Researchers identified a stem rust resistance gene and a leaf rust resistance gene, which will aid in breeding more resilient wheat varieties.
A Rutgers study found that the genetic makeup of adolescent peers can have long-term consequences for an individual's risk of developing substance use disorders, depression, and anxiety. The study used Swedish national data to assess peer social genetic effects for several psychiatric disorders.
Researchers at U of T mapped the spatial distribution of long non-coding RNAs in testes, finding higher levels than previously estimated. The study suggests lncRNAs play a more significant role in male reproduction and may influence sperm development and behavior.
Researchers at KAUST have developed NanoRanger, an accurate and rapid method for genetically diagnosing Mendelian genetic disorders. This breakthrough enables diagnosis in just 12 minutes, providing a detailed picture of the genomic disorder.
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Researchers at the University of Birmingham identified specific groups of neurons in the female fly's brain responding to the sex-peptide, which influences post-mating behaviors. The study found that the peptide targets higher-order 'command neurons' essential for behavioral decision-making.
Researchers found evidence of multiple waves of genetic intermingling between modern humans and Neanderthals, challenging previous theories. The study reveals a more intimate connection between early human groups than previously believed.
Scientists have mapped over 5,000 genetic variants in the 'tumour protection' gene BAP1 that significantly increase cancer risk. These variants can be used to develop new treatments, including IGF-1 inhibitors, to slow down or prevent cancer progression.
Researchers at the Francis Crick Institute have mapped all possible outcomes of changes to the tumour-suppressing VHL gene, enabling clinicians to predict cancer-causing variants with 100% accuracy. The study also found that faulty VHL mutations can increase the risk of kidney cancer and may benefit from belutifan treatment.
Scientists have developed a near chromosome-level genome for the Mojave poppy bee, which is a specialist pollinator of conservation concern. The genome assembly will help researchers understand the bee's biological traits, including host-plant specialization and susceptibility to pesticides.
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Researchers at EPFL have published an open-source project Tabulae Paralytica, providing a comprehensive understanding of spinal cord injury biology. The study identifies specific neurons and genes involved in recovery and proposes a successful gene therapy derived from its discoveries.