Articles tagged with Genomics
A study by RIKEN researchers identifies a MYCN-driven biomarker that predicts the risk of liver cancer. The biomarker, known as the MYCN niche score, uses machine learning to analyze gene expression patterns and indicates whether a tumor-free liver is at high risk for developing tumors.
Research from Salk Institute scientists shows that DNA's dynamic folding process affects gene regulation and expression, with specific regions unfolding at different rates to regulate cell type-specific functions.
Researchers found a smooth variation in sensitivity to diapause induction with air temperature and daylight length, suggesting genes regulating circadian rhythm play a key role. The timeless gene was associated with variations in female diapause sensitivity, providing insights into molecular mechanisms behind diapause.
The Global Exposome Forum is a global initiative that aims to understand the complex interplay between biological, chemical, and environmental exposures and human health. The project has partnered with national governments, scientific institutions, and large membership-led organizations to advance exposomics science.
Researchers used genome sequencing to identify blight-resistant trees with high American chestnut ancestry, preserving the species' ecological and cultural importance. The approach, known as genomic selection, allows breeders to predict resistance and make better decisions earlier in the breeding process.
A new strain of yellow rust pathogen has broken down a key resistance gene, leaving over 50% of the UK's wheat acreage vulnerable. Researchers are racing against time to find new resistance genes and breed them into modern wheat varieties.
The journal Current Genomics is now open for submissions, covering modern genome science and its applications in systems biology, bioinformatics, and machine learning. Researchers can submit original research and reviews on human diseases, clinical genomics, precision medicine, and plant genomics.
A research team led by Boyce Thompson Institute has created the most comprehensive genetic map of cucumber ever made, revealing nearly 172,000 large-scale DNA rearrangements that shape its evolution and agronomic traits. The study found that structural variants were purged during domestication, but continued to be present in global var...
A research team has developed a 'SUPER' platform that utilizes synthetic small RNAs as add-on controllers for genetic switches. This technology enhances the performance and stability of gene regulatory devices by addressing the issue of 'leakage', where genes continue to express at low levels even in the 'OFF' state.
A massive genome-wide association study identified 58 genetic variants associated with increased anxiety risk, pointing to 66 genes involved in stress response. The study also found strong genetic overlap with depression, neuroticism, and PTSD, underscoring the shared biology behind emotional distress.
A new study suggests blocking key protein p300 can create novel form of cellular stress in cancer cells, re-sensitizing chemo-resistant tumors. Cells produce proteins even with damaged DNA, leading to toxic buildup and stress inside the cell's internal quality-control system.
The John Innes Centre has been awarded £21.5m in funding to support four precision breeding projects, aiming to reduce emissions and strengthen crop resilience. These projects will help protect two major agricultural crops from diseases, enhance the nutritional content of tomatoes, and develop sustainable sources of rubber.
Researchers developed polygenic risk score models to predict breast cancer risk in women of African ancestry, improving accuracy and performance compared to existing models. The new tools could lead to earlier screening, tailored care, and increased survival rates for high-risk women.
The G protein-coupled estrogen receptor (GPER) is a key regulator of endocrine resistance in breast cancer, promoting tumor survival and proliferation. Elevated GPER expression is associated with poor therapeutic response and disease recurrence, highlighting its role as a coordinator of tumor-stroma interactions.
Researchers at Salk Institute debut an epigenetic catalog that shows genetic inheritance and life experiences have distinct effects on various types of immune cells, shedding light on individual differences in immune responses and potential new personalized therapeutics.
A University of Oklahoma researcher has been awarded a competitive NIH grant to advance tribally defined genomic research approaches. The project, called Partnerships for Indigenous-led ELSI Research (PIER), will strengthen meaningful collaboration with Indigenous communities and promote Indigenous-driven approaches to genomic research.
A team of researchers from Institute of Science Tokyo developed a novel enzyme, MAN, that efficiently converts common nucleotide substrates into RNA nucleotides with remarkable efficiency. This method simplifies the production of RNA building blocks by using inexpensive and stable polyphosphate as a phosphate donor.
The Assessing Genetic Diversity in Africa (AGENDA) project has generated whole-genome sequence data from over 1000 individuals from underrepresented communities, aiming to correct the imbalance in global genomic datasets. This effort will help predict disease risk and tailor treatments more effectively for African populations.
Researchers have identified a metabolically sensitive cell subtype in the eye's drainage system that shows early signs of dysfunction in a genetic mouse model of glaucoma. The study provides what the editors say are fundamental findings highlighting a potential therapeutic strategy for preventing or slowing the development of glaucoma.
The study provides direct evidence of large-scale human mortality during the Plague of Justinian and offers insight into how people moved, lived, and became vulnerable within ancient cities. The mass grave at Jerash, Jordan, helps resolve a long-standing puzzle about ancient community dynamics.
A two-step genome editing method integrates large human genomic fragments into mice, mimicking human regulatory landscapes. This platform enables the creation of physiologically relevant humanized models for therapeutic targets and disease research.
Researchers discovered a 'genome size–ecological function' differentiation pattern among cyanobacteria, identifying smaller genomes as 'streamlined types' that dominate in phosphorus-deficient environments and rarely produce toxins. This study proposes using a genome size threshold to initiate preventive measures before blooms occur.
A research team at Goethe University Frankfurt has compiled a catalog of human E3 ligases and mapped their relationships, revealing family-specific functions. The study identifies 40 additional E3 ligases suitable for PROTAC development, expanding the range of tissues and diseases targeted by degradation therapies.
eQTLs modulate gene expression through various molecular mechanisms, providing insights into disease etiology. eQTL analysis has elucidated the functional relationship between genetic variants and complex traits in diseases such as RA, T2D, breast cancer, and SZ.
A large-scale population genomic study has shed new light on the evolutionary history of the button mushroom (Agaricus bisporus), one of the most widely cultivated edible fungi in the world. Climate dynamics and a key gene for adaptive evolution and domestication jointly shaped the mushroom's diversity.
A study published in PNAS found that over 60% of pairs of damaging genetic variants can restore enzyme activity when combined, challenging long-held assumptions about genetics. This phenomenon, known as intragenic complementation, has implications for rare disease diagnosis and treatment.
A study found that increased bone morphogenetic protein signaling is linked to impaired neurogenesis in Alzheimer's disease, particularly in female mice. The research suggests that activation of BMP signaling may be a key factor contributing to the sex-based differences observed in AD.
The study created a critical framework for understanding the architecture of the genome and its association with gene function in cells. The 4DN Consortium integrated data from over a dozen techniques to compile an extensive catalogue of looping interactions between genes and regulatory elements.
Children's Hospital of Philadelphia researchers have developed a method to help cancer immunotherapies reach 'invisible' tumors. HLA-Shuttle is an engineered protein complex that restores antigen presentation in immunologically 'cold' neuroblastoma cells, identifying previously unknown targets across 30 genes linked to neuroblastoma.
The journal Biological Diversity is seeking experts in various disciplines to address the global biodiversity crisis. The editorial board will comprise senior scholars, while the youth editorial board will include early-career researchers. The dual structure aims to combine strategic wisdom and innovative energy.
A recent genomic study by Dr. Mayana Zatz and colleagues reveals that Brazil's admixed population may hold the key to understanding exceptional aging. The study identifies over 8 million novel genetic variants in the Brazilian population, with potential protective mechanisms against age-related diseases.
A new study found that people have moved pigs across the Pacific for millennia, introducing invasive species to Indonesia and beyond. The research used genomic analysis to track pig movements, revealing a complex history of human activity in the region.
Professor Dan Stein was a visionary who bridged neuroscience, clinical care, and philosophy to transform psychiatric research in Africa. His integrative approach produced scholarship of extraordinary range, with over 1,600 peer-reviewed publications and a Google Scholar h-index exceeding 220.
Researchers develop ddHodge, a geometry-preserving method that accurately reconstructs cell state dynamics. The technique reveals repeating processes like the cell cycle and identifies critical biological moments in embryonic development, tissue regeneration, and cancer progression.
A team of HSE researchers has created a comprehensive map of quadruplexes, unstable DNA structures involved in gene regulation. The study reveals that quadruplexes function in pairs, regulating tissue-specific genes in healthy tissues and cell growth and division in cancerous tissues.
Researchers analyzed solitary mason bee gut metagenomes to understand how urban environments shape diet, microbiome stability, pathogen exposure, and antibiotic resistance. The study found that bees' gut ecosystems containing both bacteria and viruses are more resilient than bacteria-only communities.
Flinders University researchers discovered a biological process that could explain some stillbirths and pave the way for early detection. The study found that molecules called circular RNAs build up in the placenta too quickly during pregnancy, compromising its ability to nourish the baby.
Researchers developed RNACOREX, a new open-source software tool that identifies gene regulation networks in cancer. The tool analyzes thousands of molecules simultaneously to detect key interactions, providing an interpretable molecular map that improves understanding of tumors.
Researchers analyzed DNA captured on air filters since the 1960s to track changes in ecosystem biodiversity. The study found a clear decline in biodiversity from the 1970s to the early 2000s, linked to human activities such as forest management.
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
Researchers at The Hospital for Sick Children have identified a non-coding gene called CISTR-ACT that regulates cell size. By exploring its molecular mechanism, the team found that CISTR-ACT guides a protein called FOSL2 to bind to other genes, controlling cell growth and development.
A £1.4 million funding has been secured by the University of Stirling to explore tissue remodelling processes in salmon, with a focus on reducing mortality linked to gill and skin health issues. The research will deliver practical tools for fish health and productivity while enhancing sustainability in the Scottish aquaculture industry.
A study analyzed large-scale human ChIP-seq data to identify unmeasured transcription factor-tissue/cell type pairs, revealing significant gaps in current knowledge. These findings indicate that essential regulatory mechanisms may have been overlooked, emphasizing the need for strategic prioritization of measurement targets.
Researchers at Arizona State University introduce powerful tools to analyze microbial family trees and biological data, strengthening microbiome research, disease tracking and environmental monitoring. The new software library scikit-bio provides a foundation for analyzing large biological datasets.
Researchers have identified the enzyme N4BP2 as the key driver of chromothripsis, a process in which cancer cells rapidly evolve and become resistant to treatment. The study reveals that tumors with high N4BP2 expression exhibit significantly more chromothripsis and structural rearrangements.
Researchers develop comprehensive method to connect diseases with underlying genetic machinery, revealing intricate gene networks that influence complex traits. The new technique provides actionable insights into how specific genes affect cell functions, shedding light on biological mechanisms and potential therapeutic targets.
A new study suggests that genetic differences passed down from ancient human ancestors and exposure to common chemicals could explain why some women are more likely to develop endometriosis. Researchers identified six genetic variants linked to the condition, which also occur in genes sensitive to modern pollutants.
The new PLAMseq technique enables simultaneous analysis of chromatin-associated proteins and their location in the genome, opening up new avenues for researching human diseases. This breakthrough could lead to a better understanding of epigenetic mechanisms underlying diseases such as cancer and neurological disorders.
A recent study found thousands of missing transcripts in people from non-European populations, potentially leading to new insights into disease risk and genetic variations. The study highlights a lack of global representation in current gene maps, built largely from European DNA sequences.
The Spatial Touchstone project has developed a standardized framework for spatial transcriptomics analysis, providing critical metrics and quality control measures. The repository includes curated datasets from six tissue types, paired with an open-source software tool to compare samples across institutions.
A study compares five DNA foundation language models across 57 diverse datasets to identify their strengths and weaknesses in predicting gene expression, identifying genomic components, and detecting harmful mutations. The findings highlight the importance of selecting appropriate models based on specific genomic tasks.
Researchers have identified regions of the human genome particularly prone to mutations, which can be inherited by future generations. The mutated stretches of DNA are located at the start point of genes and are more susceptible to errors during cell division.
Researchers created AI model popEVE that can identify disease-causing mutations in human proteins, even for unique cases. It ranks mutation severity across the body, helps doctors focus on most damaging variants first.
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.
A 15-member research team has gained insight into the DNA of the Northern root-knot nematode, a parasitic nematode that causes significant economic damage to many crops. The study reveals an unusual DNA repeat at the ends of its chromosomes, which may provide a clue to its ability to infect a wide range of plants.
Researchers at Children's Hospital of Philadelphia have identified four genes linked to osteoblasts and their ability to mature, which can affect bone mineral density. A polygenic risk score called genetic quantitative ultrasound speed of sound (gSOS) was also found to be associated with higher bone mineral density and reduced odds of ...
Researchers at UC Davis have discovered that Cabernet Sauvignon retains molecular marks from its ancestors after 400 years of clonal propagation. The study used advanced genome sequencing to assess the stability of epigenetic modifications, which can influence traits like fruit quality and stress tolerance.
The Ontario Hereditary Cancer Research Network has created a comprehensive provincial database to support research on cancers passed down through genetics. Ontarians at risk of hereditary cancers can now register for access to clinical trials, advocacy groups, and other resources.
A study published in Nature found that wild birds, particularly ducks, geese, and swans, are driving the current US bird flu outbreak. The viruses were introduced to North America via migratory birds and have become better adapted to infect wild birds since 2020.
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.