Articles tagged with Genomics
A new study reveals that analyzing DNA can help predict which animals are most at risk of extinction. By examining the genomes of 240 mammal species, scientists found that those with smaller historical populations carry higher burdens of damaging mutations and are more likely to face extinction.
The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.
A new study reveals a protein in the nervous system regulates collagen expression, potentially extending human lifespan as temperatures rise. Mutant worms with increased collagen production lived longer and looked younger than wild-type worms under warm temperatures.
Researchers teamed with Ethiopian farmers to develop new wheat varieties using genomic analysis. Farmers' knowledge played a crucial role in predicting crop yields and selecting optimal traits. The project aims to preserve agrobiodiversity and promote cultural heritage.
Researchers identified high expression of glypican-1 in primary solid tumors, correlating with poor prognosis in various cancer types. Suppression of GPC1 attenuated cancer cell proliferation, suggesting its potential as a novel diagnostic tool and target for therapy.
ISB researchers constructed a biological body mass index that offers a more accurate representation of metabolic health. The team found that even with no weight loss, individuals can be getting healthier biologically through positive lifestyle changes.
Researchers have successfully used AAV1.NT-3 gene therapy to improve muscle physiology and prevent age-related sarcopenia in mice. The treatment resulted in restored muscle mass, strength, and neural connections, offering a potential new option for managing this debilitating condition.
Molecular biologist Shixin Liu is recognized for developing cutting-edge biophysical tools to visualize and understand biomolecular machines. His work aims to establish a quantitative input-output relationship between environmental stimuli and gene expression profiles.
Researchers discovered that fruit flies have distinct hunger drives, one driven by need and the other by pleasure, which arise from unique neural mechanisms. The study found that hungry flies increase feeding event duration and total events, and identified specific brain regions activated by pleasurable food environments.
Researchers at Rutgers University used artificial intelligence to analyze genes associated with cardiovascular disease, identifying key factors such as age, gender, and race. The study aims to accelerate early diagnosis and treatment of conditions like atrial fibrillation and heart failure.
Researchers at NIH's National Human Genome Research Institute identified a gene, KTD1, that provides resistance to the K28 toxin in yeast. This discovery sheds light on the molecular mechanisms underlying toxin resistance and has implications for understanding human toxin resistance.
Researchers examined three epigenetic age acceleration measurements and found inverse associations with lung cancer risk in men and younger participants. However, these findings did not support a positive association between epigenetic age measures and lung cancer risk in the study.
Verkko software assembles gapless human genome sequences quickly and precisely, enabling better assessment of genomic diversity and comparative genomics. This innovation accelerates efforts to generate complete genome sequences of various species, improving research and discovery in the field.
A study analyzed gene expression data from 46 different human tissues to understand the impact of circadian and circannual cycles on human health. The research revealed that certain genes have strong diurnal or seasonal preferences, which could inform effective diagnostic and therapeutic strategies.
Researchers identified a rare neurological disease in three children associated with mutations in the ATG4D gene, which plays a crucial role in cellular recycling. The study suggests that this genetic variation may lead to insufficient cellular recycling, causing speech and motor impairment.
Researchers at Rice University's Center for Theoretical Biological Physics discovered Aedes aegypti's chromosomes have a unique 'liquid crystal' structure, unlike other species. This finding may provide insights into the functioning of genomes and gene regulation.
A team of researchers developed an AI-based method called m6Anet to accurately predict chemical modifications of RNA molecules from genomic data. This enables the detection of RNA modifications in clinical samples and understanding their role in diseases such as cancer.
A study by Pusan National University researchers found that countries closer to the equator have higher suicide rates due to decreased sunlight exposure. The prevalence of suicide increased with latitude, and was found to be higher in men than women, with age also being a significant factor
A single test can now identify all three genotypes of the Infectious Spleen and Kidney Necrosis Virus (ISKNV), a deadly virus that primarily affects fish. The development of this test has significant implications for fisheries and aquaculture, as ISKNV poses a substantial threat to these industries.
Scientists have identified genes that play key roles in the development of coronary artery disease (CAD), a leading cause of death worldwide. The study found notable differences in gene activity between males and females, as well as between cells that were multiplying and those that were not.
Scientists have identified horizontally transferred genes in insect genomes as valid targets for selectively killing green peach aphids and whiteflies. Silencing these genes using RNA interference reduces pest survival by up to 40%, with potential expansion to other insects through 'stacking' multiple targets.
Research from Brigham and Women's Hospital found that genetic analysis can identify up to 65% more A2 donors, increasing potential kidney transplants for recipient candidates with blood type B. This could improve availability and equity in kidney transplantation.
A new toolkit enables researchers to map individual RNA data to a more diverse 'pantranscriptome', addressing reference bias and increasing the accuracy of gene expression mapping. This approach builds on pangenomics, allowing for the comparison of an individual's genome to genetically diverse cohorts of reference sequences.
A study reveals that endogenous retroviruses awaken during aging, leading to cellular senescence and acceleration of aging. Researchers propose a new theory of programmed and contagious aging induced by ERV resurrection.
The São Paulo School of Advanced Science on Epidemic Preparedness will bring together researchers from various fields to discuss core tracks such as mathematical modeling, genomics, epidemiological surveillance, and public health policies. Participants will engage in simulated situation rooms and hands-on experience with leading faculty.
Scientists from CHOP and NJIT created a software tool to analyze information from a single cell, revealing relationships between different cellular characteristics. The 'single-cell multimodal deep clustering' method can help identify the causes of genetic-based diseases by integrating data on gene expression, mRNA, proteins, and organ...
A new study identifies the FGF14 gene as the most common genetic cause of late-onset ataxia in Quebec, a debilitating neurodegenerative condition. The discovery opens treatment possibilities and may lead to improved diagnosis for thousands of people worldwide.
Researchers analyzed 119 articles from the Lit Covid database to understand how researchers use ethnoracial categories in biomedical studies. The study found that many articles used terms 'race' or 'ethnicity' without clear definitions, leading to confusion and misinterpretation of research findings.
Johannes Gutenberg University Mainz has been awarded funding for three Collaborative Research Centers in the life sciences, including CRC 1551 and CRC/Transregio 355. The centers will focus on investigating polymer concepts in cellular function and heterogeneity of regulatory T cells in distinct microenvironments.
The German Research Foundation renewed CRC 1361 for an additional four years to explore mechanisms of DNA repair and genome stability. The consortium aims to elucidate how cells safeguard genetic information and promote human health by understanding DNA damage signaling pathways.
Researchers from Children's Hospital of Philadelphia identified several genetic variants associated with increased cancer risk in children with non-chromosomal birth defects. The study found that these variants were more commonly found in genes related to birth defects and cancer, suggesting a potential basis for early detection.
A new study led by UCSC scientists suggests that introners are the source of most introns across species, providing a plausible explanation for their vast majority. The researchers found evidence of introners in 5.2% of surveyed eukaryotic species and suggest they may be a fundamental mechanism driving genomic complexity.
Researchers at Oak Ridge National Laboratory have discovered genetic markers for autism, developed recyclable composites to drive the net-zero goal, and created a tool for real-time building evaluation. Additionally, they have made significant progress in growing hydrogen-storage crystals using a novel nano-reactor material.
ISB researchers found that the gut microbiome is responsible for variation in circulating blood metabolites across people. The study examined 930 blood metabolites and found that over 60% were associated with either host genetics or the gut microbiome.
A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or off genes, which led to the discovery of the cause of Congenital Hyperinsulinism. This breakthrough could unlock new causes of rare diseases and pave the way for improved treatments.
Researchers analyzed DNA from 13 Neandertals, finding evidence of a close-knit community with 10-20 individuals. Genetic data suggests that female migration played a key role in maintaining the group's cohesion, contradicting previous theories about male-dominated movements.
Genetic and genomic technologies can protect marine life by identifying illegally harvested seafood products and monitoring disease outbreaks. Assisted evolution and synthetic biology could also benefit ocean ecosystems by introducing beneficial species or manufacturing products in the lab.
Researchers have completed and released a chromosome-scale genome sequence of the Aldabra giant tortoise, providing a much-needed genetic resource for rescue efforts. The data will aid in breeding efforts, comparative studies with other tortoise species, and understanding the species' remarkable size.
Researchers created a new approach to predict genomic information in plant breeding, allowing for more diverse crop varieties. The strategy led to plants that outyielded current wheat varieties in multiple field trials, offering potential solutions to crop disease evolution and climate change.
The use of Frictionless Data enhances both machine readability and human engagement with scientific outputs, turning articles into dynamic entities. Interactive figures enable readers to directly interact with data points, making the publication process more efficient and reproducible.
Researchers from the Netherlands Cancer Institute have discovered a new 'mystery gene' responsible for maturing the actin protein, a main component of the cell skeleton. The findings shed light on the complex process by which proteins are completed and functional in cells, with potential implications for understanding muscle diseases.
The Leducq Foundation has awarded $7.5 million to UVA researchers, led by Mete Civelek, to investigate sex differences in atherosclerosis and $8 million to Coleen McNamara to advance immunotherapy for cardiovascular disease. These projects aim to improve understanding of heart disease and develop new treatments.
Researchers have reconstructed the genome of the common ancestor of all mammals, revealing key features such as 19 autosomal chromosomes and 38 sex chromosomes. The study provides insights into the evolutionary stability of gene order and orientation on chromosomes over millions of years.
A study on common ragweed found that its gene adaptation is key to its successful invasion of Europe. The plant's ability to resist local pathogens and hybridize with other species has allowed it to outcompete native species.
Researchers at NIH/National Human Genome Research Institute discovered a network of proteins necessary for restoring hearing in zebrafish through cell regeneration. The study identifies two families of transcription factors that work together to activate hair cell regeneration, offering potential insights into treating human hearing loss.
A multi-institute team used BGI Stereo-seq technology to create a single-cell resolution spatiotemporal map of salamander brain development, revealing key neural stem cell subsets and dynamic changes in spatial distribution. The study provides new ideas and guidance for regenerative medicine in the mammalian nervous system.
A team of researchers from Ritsumeikan University in Japan has elucidated the mechanism behind the liquid-solid phase transition of FUS protein that leads to ALS. They discovered a new therapeutic target, arginine, which suppresses FUS aggregation and could delay ALS progression.
The Association for Molecular Pathology has published consensus recommendations for clinical TPMT and NUDT15 genotyping assays, promoting standardization across laboratories. The report identifies a minimum set of alleles to include in clinical tests, enabling healthcare professionals to provide high-quality patient care.
Researchers have identified nearly 8,000 short RNA sequences that code for microproteins and peptides, opening new avenues for disease research and drug development. The technique used to discover these sequences provides a comprehensive map of human smORFs, highlighting overlooked functional components of the genome.
Scientists at UC San Francisco and Gladstone Institutes use CRISPR-based edit to render therapeutic T cells more resilient, overcoming a major factor limiting cancer immunotherapies' success. The discovery may help improve treatment of both solid and liquid tumors.
Mutations in EnhP disrupt a non-protein coding gene, causing pancreatic malformations and diabetes. The study sheds light on the hierarchical operation of enhancers in gene regulation.
A recent study analyzed millions of SARS-CoV-2 genomes and found that recombination occurs more frequently in the spike protein region. The researchers developed a new software, RIPPLES, to detect this phenomenon, which is crucial for understanding the evolutionary history of the virus.
A team of researchers at the University of Hawaii collected over 3,000 microbial samples from Waimea Valley's watershed, discovering that microbes follow the food web and are maintained within soil and stream water. The study also found that local distribution of a microbe predicts its global distribution.
Researchers develop technique to control pH at microsites, enabling high-throughput biomolecular synthesis and enzymatic DNA synthesis. This allows for increased experimental throughput and speeding up processes in DNA synthesis.
Leading scientists propose updated global guidelines to improve rare disease diagnosis using whole-genome sequence data, building on insights from Genomics England's rare disease participants. The guidelines aim to address the challenge of interpreting non-coding region variants and provide a framework for standardizing diagnoses.
The Mount Sinai Hospital has been awarded $4.2 million over five years to establish a Proteogenomic Data Analysis Center, which will help identify potential biomarkers and drug targets for cancer and new insights into cancer biology.
Quantitative disease resistance is a promising approach to combat plant diseases, which cause an estimated 13% loss of global crop yields annually. Researchers aim to identify disease resistance mechanisms for important corn diseases and develop genetic resources for the broader maize genetics community.
The California Conservation Genomics Project is generating high-quality data to inform conservation policy, mapping genetic diversity across the state's diverse ecosystems. By analyzing over 22,000 genomes, researchers aim to identify critical habitats for protection and create a snapshot of genomic biodiversity.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
A novel single-cell RNA sequencing technique, TAS-Seq, has been developed to provide higher-precision data than current methods. The new method detects more genes and identifies highly variable genes, making it a sensitive high-throughput scRNA method.