Articles tagged with Genomics
A new AI model, SpliceSelectNet, accurately predicts RNA splicing by capturing long-range DNA signals. The model's hierarchical Transformer architecture preserves high computational efficiency while maintaining single-nucleotide resolution, enabling accurate analysis of genomic regions.
A genomic study found two previously unreported truncating germline variants in BRCA2, suggesting inherited alterations may contribute to susceptibility to multiple primary lung cancers. The study also points toward important clinical applications, including the use of PARP inhibitors and molecularly targeted approaches for treatment.
Researchers at UNH and Cornell discovered that Salvinia ferns have dynamic genomes linked to reproduction differences. The study reveals the role of chromosome fissions and fusions in shaping their genome size and structure.
Researchers Dfam and Repbase collaborate to create a unified open platform for transposable element annotation, providing decades of expertly curated data freely available. The integration will support large-scale genome annotation, evolutionary research, and biomedical applications.
A new genome and multiomics study has uncovered a coordinated molecular framework underlying the plant's organ-specific metabolic specialization. Flavonoids are mainly enriched in aerial tissues, while triterpenoids preferentially accumulate in roots.
A new genetic study provides the most detailed picture to date of late Neandertal diversity in North-Western Europe. The researchers found that these Neandertals were part of a larger and more well-connected regional population, unlike previously seen in Siberia.
A newly developed open-source tool called Talos is highly effective at detecting new rare disease diagnoses. The tool automates the reanalysis process of stored DNA data, integrating monthly updates of new knowledge about genes and variants to identify potential new diagnoses.
Researchers discovered blood RNA biomarkers that could support earlier diagnosis of Alzheimer's disease, potentially reducing the need for invasive tests. They identified brain-specific markers in circulating blood nanoparticles, which may offer a minimally invasive approach for diagnosing the progressive neurodegenerative disease.
The study synthesizes recent advances in single-cell and spatial transcriptomics to identify tumor-enriched cell subsets closely related to prognosis and treatment response. The review introduces the
The University of Bath has recruited leading psychiatric geneticist Professor Laura Huckins to lead mental health research, focusing on eating disorders and PTSD. She aims to provide answers and treatments for vulnerable populations, combining genetic data and human brain studies to predict individual responses to their environment.
Researchers have sequenced and analyzed the two-toed sloth genome, discovering unique 'jumping genes' that are likely linked to their slow metabolism. These genes, which have been conserved over millions of years, may hold clues to understanding human health conditions such as diabetes, aging-related disorders, and muscle wasting.
Researchers used patient-derived xenograft (PDX) models to study deadly DNA loops in cancer cells. They found significant similarities between human tumor samples and PDX models, including consistent presence of extra copies of oncogenes. These findings suggest that ecDNA-positive tumor cells may drive tumor growth and recurrence.
A new AI tool, HERRO, corrects errors in nanopore sequencing reads to produce high-quality complete genome assemblies. This innovation enables researchers to build more accurate and complete genome maps with a simpler workflow, unlocking potential for precision medicine advancements.
Researchers found that 66.6% of gene expression changes are linked to e-cigarette flavor and device type, while only 28.8% relate to vaping frequency or amount. The study suggests that each flavor has unique biological effects.
Researchers found that Ohio wall lizards' rapid population growth and adaptation to their new environment, with similar climate and habitat, contributed to their success. The study suggests that ecology plays a more significant role in the lizards' invasion than genetic factors initially thought.
Herrera-Estrella is one of 90 new Fellows to the Royal Society, known for his groundbreaking research on plant adaptation to environmental extremes. His work has secured over $10 million in funding and led to the development of innovative phenotyping machines.
A recent study using whole-genome data reveals the complex history of South American Indigenous peoples, with genetic diversity higher in Central America and the Southern Cone. The research also identifies a third wave of migration from Mesoamerica around 1,300 years ago, which challenges previous views about Indigenous groups.
The new study provides a comprehensive blueprint for establishing robust DNA barcoding networks worldwide. The research highlights the need for harmonizing methodologies, securing sustainable funding, and engaging stakeholders to ensure the long-term success of national nodes.
Researchers used wastewater surveillance to detect drug-resistant Candida auris strains up to five months before patients showed symptoms, opening a new frontier for hospitals. The study found higher detection rates and concentrations of the pathogen in hospital wastewater compared to community-scale treatment plants.
This review synthesizes recent progress in rice grain size and nutritional quality, identifying key signaling pathways and regulatory mechanisms. Strategic approaches, including genome editing and precision design, can improve yield while enhancing nutritional value for human health.
A team of horticulture scientists has identified the single genetic region controlling primocane-fruiting in blackberries, a discovery expected to speed up breeding for improved varieties. The study validated the result through genetic linkage mapping and identified candidate genes involved in flowering regulation.
Researchers developed RegVelo, an AI framework that models cellular dynamics and gene regulation to predict cellular fate decisions. The model traces developmental trajectories and simulates regulatory interactions, providing insights into hidden drivers of development and potential therapeutic targets.
A massive study involving 78,000 participants reveals new insights into the genetic regulation of blood proteins and their role in diseases. The findings hold potential to transform our understanding of different diseases and inform drug development.
Researchers at UT MD Anderson Cancer Center have made significant advancements in targeted therapy treatments for advanced lung cancer and early-stage classical Hodgkin lymphoma. The studies showcase high response rates with novel combination therapies and a new understanding of how an enzyme affects infertility and cancer progression.
J. Craig Venter's pioneering work in expressed sequence tags revolutionized brain-expressed genes identification, while his synthetic cells paved the way for synthetic biology as a working discipline. His legacy has reshaped our understanding of genomes and their functions.
Researchers developed a framework to study the impact of genetic variants on neurodevelopmental disorders. By analyzing induced pluripotent stem cells, they found that genetic background can lead to different clinical outcomes in individuals with the same deletion on chromosome 16.
A comprehensive watermelon super-pangenome has been established to understand genotypic differences contributing to phenotypic variation in watermelon. This resource integrates 138 genomes from wild and cultivated watermelons, revealing evolutionary relationships and genomic prediction capabilities.
Researchers developed a new tool called TRAnsmision Clustering of Strains (TRACS) to track the spread of disease-causing microbes using genomics. The tool distinguishes between closely related bacterial strains and can identify transmission networks and rule out events in ongoing public health applications.
Researchers found that camels have a more flexible and coordinated response to heat stress, allowing them to maintain stability even at higher temperatures. In contrast, human cells tend to respond in a more rigid way, making them less adaptable under heat stress.
Researchers developed a novel disease classification system and AI-assisted decision support tool to improve CMML care. The International CMML Prognostic Scoring System (iCPSS) demonstrates superior prognostic discrimination, stratifying patients into five risk groups with different survival outcomes.
Researchers have produced complete genome sequences for six peanut varieties, identifying two candidate genes linked to oil content and seed size. These findings provide a comprehensive blueprint for future peanut breeding and improvement strategies.
A study mapped early molecular and cellular changes in the jaw joint that may trigger temporomandibular joint osteoarthritis. The research found structural and molecular changes in joint tissues, including inflammation, fibrosis, and metabolic shifts. Single-cell sequencing revealed diverse cell populations interacting within the synov...
Aging bone repair declines due to mitochondrial DNA structures disrupting stem cell function, reducing energy production and causing cellular senescence pathways. Targeting these structures may restore balance between bone and cartilage formation during healing.
Researchers at Gladstone Institutes identified hundreds of human genes influencing HIV infection and two potent antiviral proteins, PI16 and PPID. These proteins block HIV's entry into T cells or limit its ability to replicate within the cell.
Researchers tracked 30 patients with chronic blood cancers over time, finding that those whose disease remained stable had 'steady' blood cells without additional mutations. Conversely, those with progressing diseases developed changes in DNA years before symptoms worsened. This challenges current views on diagnosing patients without t...
Researchers developed mosaic mini-brains to study focal cortical dysplasia type II, a condition causing seizures in children. The findings support the two-hit model, suggesting that complete loss of DEPDC5 is necessary and sufficient to initiate the disease, with mosaicism determining lesion extent.
A recent study from The Jackson Laboratory has identified dozens of unexpected genes strongly linked to type 2 diabetes. These genes are key to cell death and vitamin A metabolism, suggesting the disease depends on expression changes that can be targeted for treatment.
A new report estimates that sequencing DNA of all complex life in UK and Ireland could benefit the economy through improved crop resilience, medicine, and conservation. The Darwin Tree of Life Project has already saved research costs by providing over 2,500 reference genomes.
Researchers at UT MD Anderson have made significant advancements in cancer care, including a blood-based biomarker for cancer risk in people with Lynch Syndrome and a new target to sensitize pancreatic tumors to immunotherapy. The studies also identified a strategy to overcome radiation therapy resistance in lung cancer.
Researchers at the University of Minnesota Medical School have developed a new method called PARTAGE that provides a clearer picture of how the genome is regulated and disrupted in diseases like cancer. The method allows for the measurement of three key features from the same sample: DNA duplication, genomic alterations, and gene activ...
An international team is calling for a coordinated effort to map gene expression across every cell type and developmental stage of wheat. Spatial omics technologies can transform wheat research by revealing how individual cells respond to stress, regulate grain development, and control yield-related traits.
A study analyzing over 15,000 Latin American individuals identifies 35 genes significantly associated with autism, showing extensive overlap with previously identified genes in European-ancestry cohorts. The findings support the universal biological foundations of autism and highlight the need for diverse populations to be represented ...
A newly developed AI tool called EvORanker analyzes genetic patterns across over 1,000 species to identify the cause of rare diseases. In clinical testing, it successfully identified the disease-causing gene in nearly 70% of cases, offering new hope for treatment and closure.
Researchers developed an AI tool called PathogenFinder2 that can detect harmful bacteria before they infect humans. The tool uses protein language models and has been shown to significantly improve the detection of bacterial threats.
Researchers sequenced the complete genome of Pseudocercospora cladosporioides, identifying key genes involved in degrading the olive tree's cell wall and inhibiting its resistance mechanisms. This breakthrough will aid in breeding resistant varieties and understanding fungus-olive tree interactions.
A recent study on sheep genome sheds light on regulatory elements that influence gene expression, providing tools for breeders to select beneficial traits and avoid disease. The study mapped gene promoters and enhancers in various tissues, offering a platform for exploring future research across multiple animal species.
Scientists have developed a new method to measure the editing process that fuels cancer growth and survival. By analyzing RNA sequencing data, researchers found two distinct cellular editing programs in cancer, one accelerating and the other decelerating tumour growth. This breakthrough may lead to new therapeutic targets and treatment...
Researchers created the most comprehensive single-cell atlas of epigenetic changes in the aging mouse brain, revealing how DNA methylation, genome structure, and gene activity change across brain regions and cell types. The atlas has already shown clear epigenetic differences between different age groups and allowed the development of ...
Researchers at the University of California San Diego identified new genetic variants associated with autism spectrum disorder using long-read whole genome sequencing. The approach enhanced the discovery of genetic variants, offering new insights into the genetic origins of autism.
Researchers discovered that tendon stem cells and progenitor cells fail to differentiate into mature, functional cells, instead promoting scar buildup. Immune cells, including macrophages, also play a central role in sustaining fibrosis, creating a self-sustaining environment that is difficult to reverse.
A new study by Stockholm University researchers reveals distinct populations of Baltic Sea herring with varying levels of genetic adaptation to local conditions. The findings highlight the importance of genetic diversity in managing herring populations and suggest that current fishing practices may be detrimental to local populations.
Salk Institute researchers identified Med14, a protein connected to GLP-1 drug effects on pancreatic beta cells, leading to improved viability, insulin production, and stress resistance. The study suggests a potential molecular link between GLP-1 drugs and broader benefits, including type 2 diabetes susceptibility genes.
A new study reveals that people of South Asian, African, and European ancestry share common genetic risk factors for multiple sclerosis, despite historic lack of representation in research. The study highlights the importance of diverse representation in research to improve understanding of the disease and develop effective treatments.