Articles tagged with Genome Mapping
A new species of leaf warbler, Tokara Leaf Warbler, has been discovered in Japan through DNA analysis. The species is found only on two island groups and is considered vulnerable due to low genetic diversity and potential population declines.
A new clinical diagnostic test using optical genome mapping (OGM) has been shown to detect additional genetic variants in nearly 20% of individuals with acute leukemia. OGM offers a comprehensive view of the genome, refining diagnosis and risk stratification, and improving therapy selection. The test's high diagnostic yield and ability...
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 ...
A study analyzing 47 termite species found that genome expansion occurred before the division into wood- and soil-feeders, allowing termites to adapt to various environments. The research provides a comprehensive toolbox for future studies on social behavior, immunity, and ecological adaptations.
Dr. Dennis Lal has been appointed as the new executive director of the Center for Innovation in Health Informatics at UT Arlington, succeeding Marion Ball. He will lead initiatives on precision health, clinical AI, and health care-scale informatics.
Aviv Regev, a pioneering computational biologist, will deliver a keynote address on tissue stem cells at the ISSCR 2026 Annual Meeting. Her work has transformed our understanding of cell and tissue function in health and disease.
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.
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.
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.
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.
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 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.
A new genetic risk score combines rare and common gene variants with non-coding genome information to predict arrhythmia risk. This comprehensive framework can be applied to other genetically influenced diseases like cancer and Parkinson's Disease.
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.
A novel 3D chromosome mapping method has been developed to detect hidden structural variants in DNA, revealing new discoveries for genetic disorders. The study successfully identified known large chromosomal variants with 100% concordance and uncovered 12 novel structural variants missed by standard clinical tests.
The Global Pathogen Analysis Platform (GPAP) will enable low- and middle-income countries to conduct research and surveillance of infectious diseases independently. The platform aims to prevent disease outbreaks from developing into pandemics by detecting genetic sequences of potential pathogens.
A renowned geneticist, Dr. Martin Alda, has made a groundbreaking discovery that bipolar disorder is composed of multiple genetically distinct disorders, transforming treatment approaches worldwide. His research also highlights the importance of combining basic research with clinical observations to advance psychiatric care.
Researchers have developed a new technique called Dual transposon sequencing to rapidly identify genetic interactions in bacteria. This method reveals vulnerabilities that could be targeted by future antibiotics.
A new study published in Cell found that relying on stand-in reference DNA from similar but different species can significantly distort research findings for vulnerable species. Using the wrong genome can miss up to a third of genetic variations and lead to misleading conservation decisions.
A team of researchers from the University of Ottawa has developed a new workflow to study autophagy, a fundamental cellular mechanism that preserves cell health by recycling and degrading worn-out components. The study reveals novel signaling mechanisms regulating autophagy in response to numerous disease-related stress conditions.
Dr. Rentería's Australian Parkinson's Genetics Study (APGS) includes nearly 20,000 volunteers, generating a comprehensive genetic database to understand Parkinson's disease variability. He incorporates wearable sensors and digital biomarkers to address clinical heterogeneity.
A recent study reveals that ORC2 subunit regulates epigenetics and gene expression by compacting chromatin and attracting repressive histone marks at some sites, but activating gene expression at others. This regulation also prevents CTCF binding at certain sites, leading to changes in chromatin structure and gene expression.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
A team of scientists has decoded hidden DNA variations that influence digestion, immune response, and muscle control. The study maps genomic variation across ancestries with a breadth and resolution never before achieved.
Researchers found that a single synonymous mutation in a gene drives cucumber elongation by altering RNA structure and function. This breakthrough has significant implications for crop breeding programs and may lead to the development of precision-crop improvement techniques.
The Northwestern University-developed SOAR platform helps researchers understand diseases and find potential treatments by analyzing gene activity across various tissues. This tool enables prioritization of drugs to be sent to clinical studies, reducing development time.
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
A groundbreaking NTU Singapore-led study has identified the earliest known Asian migrants who traveled over 20,000km from North Asia to South America. The GenomeAsia100K study reveals that these ancient humans arrived in the Americas approximately 14,000 years ago, diverging into four major groups and adapting to diverse environments.
An international team of scientists has mapped the entire genome of a northern white rhino, paving the way for stem cell-based reproduction. The complete genome can be used to analyze the health of previously developed northern white rhinoceros stem cells and may eventually generate sperm and eggs to yield new rhinos.
A team of engineers developed ROADIES, a scalable, automated, and user-friendly tool that allows scientists to infer species trees directly from raw genome data. This enables more efficient biological research and application in fields such as medicine and conservation.
A team of researchers has comprehensively predicted the location of non-B DNA structures in great apes using newly available telomere-to-telomere genomes. The study suggests that non-B DNA is enriched in these segments and may play a role in genetic diseases and cancer, with potential new functions discovered.
Researchers have developed an innovative optical genome mapping technique that can identify structural variants and copy number variations across the entire genome in a single test. The method has been shown to reduce material requirements and improve prognostic stratification for patients with multiple myeloma.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Scientists at CSHL and global collaborators have sequenced complete genomes for the Solanum genus, including tomatoes, potatoes, and eggplants. The study reveals the importance of understanding paralog genes in predicting genome editing outcomes.
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.
Researchers developed a new tool called SigRM to analyze single-cell epitranscriptomics data, enabling the study of RNA modifications in individual cells. This can provide valuable insights into gene regulation and its impact on health and disease, particularly in complex conditions like cancer.
Researchers developed a new 'pan-pathogen' deep sequencing approach to capture multiple bacterial strains simultaneously. This method enables faster and more comprehensive tracking of antibiotic-resistant bacteria, potentially preventing and managing common hospital infections quicker.
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.
Scientists successfully mapped transcriptomes from 1.3 million brain cortex cells to gain molecular insights into Alzheimer's vulnerability and resilience. The resulting atlas holds promise for gene and molecular discovery across pathways affecting brain health.
A study by TUM researchers discovered four subtypes of Amyotrophic Lateral Sclerosis (ALS) with different molecular processes, including sex differences. The findings suggest repurposing an approved cancer drug targeting the MAPK pathway as a promising therapeutic approach for ALS.
Researchers analyzed genome of Oikopleura dioica, finding it has wildly different languages despite identical physical characteristics. The 'scrambling' phenomenon suggests genes are regulated differently, challenging assumptions about species identity.
Researchers at Karolinska Institutet developed a Single Cell Atlas (SCA) platform to profile human biology through multi-omics technologies. The extensive collection of data provides unique insights into individual cell properties and tissue interactions.
The completed sugarcane genome sequence offers new opportunities for breeding programs worldwide, addressing stagnant sugar yields. The high-quality genome data will improve understanding of complex traits like yield and disease resistance.
Scientists identified key factors in developing long-lasting immunity against dengue virus through analyzing immune responses to natural infection and vaccines. The study revealed molecular markers that could be used in novel vaccine development.
Scientists at Karolinska Institutet and Stockholm University have mapped the cellular architecture of MS lesions using advanced methodology. This reveals how immune cells and glial cells interact in the disease.
Researchers at the University of Chicago Pritzker School of Molecular Engineering have made a breakthrough in understanding the
A new study has identified three genes, MANBA, TNFRSF13B, and EEF1A1, as crucial in the regulation of IgG galactosylation, a trait associated with ageing. The research used GWAS to analyze IgG glycosylation phenotypes in a large sample size, increasing the understanding of this complex posttranslational modification.
Researchers have successfully mapped the entire HLA class II landscape, predicting how pathogens are displayed on cell surfaces. The mapping reveals that multiple HLA variants play essential roles in autoimmune disorders and organ rejection, highlighting their potential for developing immunotherapy treatments.
Researchers created a comprehensive chromatin map to understand gene regulatory networks contributing to differences between pediatric acute lymphoblastic leukemia subtypes. The study identified key transcription factor footprints and chromatin accessibility patterns, which can predict leukemia subtype with 89% accuracy.
Researchers compared sea stars to other deuterostomes to learn about their unique body plan, finding that genes controlling development of the ectoderm were correlated with arm patterning in echinoderms. This suggests echinoderms may have evolved by losing trunk region of bilateral ancestors.
Researchers mapped gene switches and brain cell types associated with various neuropsychiatric disorders, including schizophrenia and bipolar disorder. The study also developed AI tools to predict the influence of individual high-risk gene variants on disease.
Researchers identified the integration site pattern of lentiviral gene therapies in patient cells, shedding light on treatment safety and efficacy. The study found that integration near nuclear pores is associated with improved safety and effectiveness, avoiding oncogene regions where earlier technologies failed.
The study uncovers a unique mechanism for salt tolerance in halophytes, focusing on DNA/Chromosome stability. Genomic analysis identifies expanded gene families involved in DNA repair, chromosome stability, and cation binding pathways.
A team of University of Connecticut undergraduates has published the first full map of the butternut's DNA, a process that could help conserve endangered species. The project is part of an ambitious effort to sequence the DNA of overlooked organisms, including deep-sea corals and critically endangered birds.
Researchers sequenced genomes of key cultivated and wild pepper species to identify genes associated with critical traits like fruit shape, flavor, and stress responses. The study provides valuable genomic resources for future functional studies and breeding efforts.
A new study reveals that boys who smoke in their early teens may damage the genes of their future children, leading to increased risks of developing asthma, obesity, and low lung function. Researchers investigated epigenetic profiles of 875 people aged 7-50 and found changes associated with fathers' teenage smoking.
The team successfully completed the sequencing of the Y chromosome using long-read sequencing technology and innovative computational assembly methods. This achievement adds 41 additional protein-coding genes and provides crucial insight into reproduction, evolution, and population change.
A team of scientists has generated and analysed 2000 canine genomes, creating a toolkit for answering complex biological questions. The study reveals genetic diversity in breed morphology, behaviour, and disease susceptibility, as well as the structure of the genome.
Researchers sequenced einkorn wheat's genome, tracing its evolutionary history and identifying resilient properties that can be reintroduced into modern bread wheat. The study's findings provide insight into human migration and settlement, as well as potential solutions to protect the world's food supply.
A recent study has uncovered three previously unreported genetic loci associated with eyebrow thickness in Europeans, as well as rediscovering two of the four genetic loci previously found in non-Europeans. The research expands genetic knowledge on human eyebrow variation, with implications for dermatology and other fields.