Articles tagged with Genome Sequencing
A new tool, metapipeline-DNA, automates and standardizes genome sequencing analysis, reducing the complexity of large and complicated data. The open-access resource, developed by Sanford Burnham Prebys and the University of California Los Angeles, aims to improve collaboration and reproducibility across research labs.
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 mini-review synthesizes large-scale genomic findings to illuminate the polygenic architecture underlying common epilepsies. Rare genetic variants contribute to epilepsy risk, with shared biological pathways involving ion channel function and synaptic excitability
Researchers discovered a 5,000-year-old bacterial strain in an underground ice cave that shows resistance to multiple modern antibiotics. The Psychrobacter SC65A.3 strain has over 100 resistance-related genes and can inhibit the growth of several major antibiotic-resistant superbugs.
Urbanization may be shaping the spotted lanternfly's spread into new environments by allowing them to adapt to heat, pollution, and pesticides. The insects' genetic diversity is lower in the US compared to China, but they are still adapting to local climate conditions.
The partnership aims to support conservation genetics efforts globally by sequencing up to 4,000 unique animal samples across 1,300 species. The project will provide valuable genomic insights to inform conservation management decisions and promote ecological resilience.
The Vertebrate Genome Laboratory will apply AI to automate manual genome curation processes, expanding genomic representation across underrepresented branches of the Tree of Life. This project aims to generate high-quality genomes for tens of thousands of species, enabling discoveries in biodiversity conservation and medicine.
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.
Researchers developed an algorithm using whole-genome sequencing to detect homologous recombination deficiency, a type of DNA-repair defect vulnerable to PARP inhibitors. The approach identified genetic mutations beyond BRCA1 and BRCA2, promising more accurate patient selection for cancer treatment.
The partnership enables Fox Chase to implement clinical testing utilizing Arima's 3D-genomics technology for multiple tumor types, guiding diagnosis and treatment. This collaboration accelerates innovation through strategic partnerships integrating basic science, clinical research, and patient care.
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 created detailed maps of the human genome's three-dimensional organization across time and space, revealing how genes interact and fold as cells function. The study provides a powerful framework for predicting which genes are likely to be affected by pathogenic variants.
Researchers used long-read sequencing to analyze the nuclear genome of Amorphochlora amoebiformis, revealing an extremely high proportion of introns (74%) compared to other eukaryotic genomes. The study provides important insights into the evolutionary dynamics and potential functional roles of introns in eukaryotic genomes.
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.
A roundtable meeting in Morocco brought together experts to discuss precision breeding technologies for nutritional security and crop resilience. Precision breeding offers a targeted approach to improve crop genetics, addressing malnutrition and climate change impacts.
The Faba Granja Asturiana genome provides a precise molecular basis for understanding its DNA structure, function, and variability. This genetic resource contributes to the construction of the common bean pangenome and enables the development of more productive, resistant varieties adapted to local needs.
Researchers have made significant advancements in diagnosing acute myeloid leukemia (AML), a common and aggressive form of blood cancer. Genetic testing can now predict relapse after stem cell transplant and detect hidden gene fusions that were previously undetectable.
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.
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.
A team of researchers has identified a common sex-determining gene called ANTSR in both bees and ants, revealing a conserved mechanism that has been present for over 150 million years. This finding sheds light on the genetic basis of sex determination in these species and may have implications for bee conservation and breeding programs.
The team achieved rapid genomic sequencing and interpretation within hours, setting a Guinness World Records milestone. This breakthrough has the potential to expedite precise treatments for critically ill babies in the Neonatal Intensive Care Unit (NICU), reducing waiting times from days to hours.
Genomic sequencing in newborns has been shown to detect hundreds of treatable conditions, including childhood cancers, cardiac disorders, and neurological issues. The test was found acceptable to parents and feasible using the same sample collected for the heel-prick test.
The ASHG 2025 Annual Meeting will highlight advancements in rare disease research through long-read sequencing and collaboration. Genetic mechanisms of cancer risk and the clinical impact of latest epilepsy neurogenetics advances will also be showcased, along with decoding human aging and AI-powered genomics.
Researchers found that 27% of breast cancer cases have genetic features guiding personalized treatment immediately. The study identified over 8,300 cases suitable for future research, providing insights into prognosis and potential new treatments.
A 'genomic-first' approach can identify rare genetic disorders earlier and more frequently than standard genetic testing driven by clinical symptoms. The study found that a majority of participants with associated genetic variants did not have matching diagnoses in their electronic health records.
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.
A study by Okinawa Institute of Science and Technology researchers found that 79% of endemic ant species in Fiji are declining over the past few hundred years, coinciding with European contact and modern agricultural techniques. In contrast, non-native ant species are exploding in population.
Researchers found that children with stable gut microbiomes tend to have better growth outcomes. The study created the first-ever pediatric undernutrition microbial genome catalog, which can predict and prevent malnutrition. This discovery opens the door to new diagnostics and therapeutics for addressing global child stunting issues.
Researchers at MD Anderson have made significant advancements in treating kidney cancer, including the use of metastasis-directed targeted radiation therapy to delay systemic treatments. Additionally, preliminary data from an ELI-002 vaccine trial showed promise in delaying relapse of KRAS-mutated pancreatic and colorectal cancers.
The Earth BioGenome Project aims to create a digital library of DNA sequences to preserve and protect life on Earth. The project has revealed a refined strategy to scale up the sequencing of 150,000 species, accelerating biodiversity research and global conservation.
The Earth BioGenome Project aims to create a digital library of DNA sequences to preserve and protect life on Earth. With over 2,200 scientists in 88 countries, the project is making discoveries that could help assure food security and advance medicine.
The study reveals that Slavic groups originated in the region between the Dniester and Don rivers and migrated across Central and Eastern Europe. The genetic data show a mosaic of different groups adapting to local contexts, with no significant sex bias in migrations.
A new bioinformatics-based method, fDOG, has been developed to search for genes with certain functions, including those involved in plant cell wall degradation. The study reveals a detailed global map of enzymes capable of degrading plant cell walls, with surprising discoveries among fungi and animals.
A new Mayo Clinic AI tool, UNISOM, has shown promising results in identifying early signs of clonal hematopoiesis of indeterminate potential (CHIP), a condition that raises the risk of leukemia and heart disease. The tool helps detect CHIP-related mutations in standard genetic datasets, opening new avenues for research and discovery.
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 new study shows that mixing mice from different populations can create genetically healthier populations, increasing survival and reproductive success. The research challenges common perceptions about the risks of outbreeding depression, highlighting the benefits of genetic rescue in conservation programs.
A new study reveals that DNA damage in multiple myeloma initiates 2-4 decades before diagnosis, with key genomic events including IGH translocation and chr 1q gain. These findings may lead to new precision medicine treatment strategies for patients.
A new study uncovers a 4,000-year-old domesticated sheep infected with the ancient LNBA plague lineage of Yersinia pestis, suggesting a link between livestock and human infections. The discovery sheds light on how this deadly disease spread across thousands of years in Eurasia.
An international team reconstructs the genetic interactions of populations in the Southern Caucasus over time, showing a mostly constant ancestry profile. Evidence of migration from neighboring regions is also found, with notable instances of cultural adoption and genealogical links to Central Eurasian Steppe populations.
Researchers developed a strategy to predict multiple traits at once based on the whole genome, increasing predictive ability by 2-10 times. This method, called multi-trait genomic selection (MT-GS), combines genetic markers with known trait links for more accurate predictions, making it a promising tool for efficient and cost-effective...
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
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.
Researchers developed a software fueled by genomics to predict cancer cell behavior, combining genomics technologies with computational modeling. The new 'grammar' enables communication between biology and code, allowing scientists to build digital representations of multicellular biological systems and simulate diseases like cancer.
A groundbreaking single-day study on Crete's soil microbiome has provided new insights into the environmental factors influencing microbial diversity. The researchers identified several key drivers, including soil moisture and nutrient availability, which can inform strategies for preserving biodiversity.
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.
A new study found that over 65% of ovarian cancer tumors exhibit whole-genome doubling, making them more resistant to treatments. WGD-high tumors suppress the immune response by repressing key pathways.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Researchers from University of Zurich and Basel decode historical specimen to understand how 1918-1920 influenza pandemic evolved in Europe. The Swiss genome reveals three key adaptations that made the virus more resistant to human immunity and more infectious.
The American College of Medical Genetics and Genomics has released its updated 2025 secondary findings gene list v3.3, adding three new genes to the list and introducing a new publicly available webpage to aid clinical labs in determining reportable variants. The update aims to ensure patient benefit from advances in genomic medicine.
Dr. Danielle Beckman's research uses animal models to understand how viruses like COVID-19 trigger neurological damage and accelerate Alzheimer's disease. Her work has established critical connections between viral infections and neurodegenerative processes.
Scientists from Pusan National University discovered a genetic biomarker, FCGBP, that is strongly linked to bronchiolitis obliterans syndrome and poor outcomes following lung transplantation. The finding may help identify high-risk patients and devise timely immunosuppressive treatments.
A new study has reconstructed two 4000-year-old genomes from Mycobacterium lepromatosis, a rare pathogen that caused Hansen's Disease in the Americas. The discovery challenges historical records of leprosy's impact on population health and its origins in the continent.
Researchers at Stockholm University have uncovered the evolutionary history of the Norwegian lemming, revealing it to be one of the most recently evolved mammal species. The study found that the Norwegian and Siberian lemmings diverged approximately 35,000 years ago, with no evidence of interbreeding between them.
A new machine learning algorithm, SAVANA, has been developed to accurately detect structural variations in cancer genomes using long-read sequencing data. The algorithm was tested on 99 human tumour samples and showed high consistency with current clinical standards.
A new genomic study offers a unique lens for understanding the extinction crisis in Hawai'i, revealing that there is still time to save the critically endangered honeycreeper 'akeke'e. With only 17 species of iconic honeycreepers remaining, efforts to control mosquito populations and conservation breeding programs are underway.
Researchers found evidence that introners, a type of selfish gene, are responsible for spreading genetic complexity across species. The study revealed eight instances of horizontal gene transfer between unrelated species, suggesting that introners may hitchhike on giant viruses to transfer between species.
Rajeev Varshney, a Murdoch University professor, has been elected as a Fellow of the Australian Academy of Science. He is recognized for his groundbreaking work in genomics, genetics, and pre-breeding, helping to secure food production in the face of climate change.
Researchers at Stockholm University and UK DRI have identified a common disease signature across all ALS-causing mutations in motor neurons, revealing early mitochondrial dysfunction. This discovery opens up new avenues for early treatment methods, targeting the energy factories of nerve cells before other signs of disease appear.
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.
The latest focus issue of Molecular Plant-Microbe Interactions explores the molecular, cellular, and genomic details of cereal crop diseases, highlighting key research on plant-pathogen interactions. Groundbreaking work has advanced the field, offering new insights into disease resistance and management strategies.