Research reading and comparing genomes. Covers disease redefinition, pangenome-guided breeding, crop pathogens, and reference genomes for neuroscience.
A new DNA test has been developed to identify the genetic causes of inherited muscle disease, offering hope for diagnosis and treatment for thousands of Australians. The test, which uses long-read sequencing, screens over 300 genes and detects complex genetic changes that older tests miss.
Researchers identified shared and disease-specific molecular changes in human brain tissue, contributing to neurodegeneration, psychiatric illness, and cognitive decline. The collection establishes a foundational resource for understanding brain disorders, accelerating discovery and therapy development.
Researchers found Xinjiang walnuts carry two genetic histories, offering a clearer path to walnut varieties with improved flavor, nutrition, and environmental adaptability. The study identified key genes associated with tannin content, oleic acid accumulation, and shell thickness, providing a clearer path toward walnut breeding.
A recent study suggests that cerebral palsy (CP) may be a collection of symptoms that can occur in various conditions, rather than a single disease with genetic causes. The research found that only 89 of 515 genes previously linked to CP have a statistically significant association with the condition.
Researchers develop pangenome-guided breeding strategy to combine beneficial genes and traits for higher yields and stress tolerance in crops. The approach identifies and reintroduces lost genetic variants from wild species, resulting in improved seed size and high-altitude adaptability.
A research team has discovered a fungal protein responsible for defoliation caused by Verticillium dahliae, leading to significant crop losses. The findings can contribute to the development of novel methods for controlling plant diseases through improved detection and genetic modification of resistant plants.
Researchers have produced the first complete genome assembly of the zebra finch, unveiling thousands of previously hidden genes and chromosome structures. The study resolves decades-long uncertainty over gene loss and provides insights into avian sex chromosomes and centromere architecture.
The first complete marmoset genome is now available, providing a high-quality reference for studying complex diseases like Alzheimer's. The new genome reveals variation in genes linked to Alzheimer's disease, as well as immune system genes and previously un-catalogued ribosomal DNA genes.
Two subspecies of wild boar in Japan, Japanese Wild Boar (JWB) and Ryukyu Wild Boar (RWB), have been found to share a common ancestral population. Genetic analysis reveals they diverged from Eastern Russian/Northern Chinese wild boars around 25,000-10,000 years ago.
Researchers sequenced medaka genomes using PacBio HiFi and Oxford Nanopore sequencing, revealing conserved centromeric sequences and a giant mobile element. The study provides insights into chromosome stability, sex determination, and the phenotypic traits of different organisms.
Researchers at Penn State and the USDA have identified 10 genomic variants associated with increased virulence in Marek's disease virus, a deadly illness affecting chickens. The study could inform the design of more effective vaccines that can prevent future breakthroughs.
Circulating circRNAs show high cell-type and tissue specificity, making them ideal for non-invasive cancer management. They can be detected in multiple body fluids and reflect treatment response, positioning them as functional drivers of therapy resistance.
Researchers analyzed over 600 tumors from 544 patients and found distinct genomic signatures of DNA changes linked to different chemotherapies. These patterns appeared as early as 91 days after treatment began, allowing clinicians to track treatment-resistant tumours and potentially reduce toxic effects. The study could lead to a more ...
Researchers at Salk Institute create a body-wide single-cell atlas of two major epigenetic systems, revealing that cell-type-specific epigenetic features can affect disease risk. The study identifies over 1.36 million differentially methylated regions and 283,606 differential chromatin loops across the human body's cell types.
A comprehensive survey of the Great Barrier Reef's microbiome reveals over 800,000 microbial genomes, identifying 500 new bacterial species and 300,000 distinct viruses. The study provides insights into the impact of human activities on the reef's health.
Darwin's Ark has established the world's largest community-powered pet research initiative, combining genetic data with owner information to explore questions about pet health, behavior, ancestry, and evolution. Researchers can collaborate by submitting a request form, accelerating discoveries that benefit animal and human health.
A new genomic study has identified close family relationships among Scythian elite individuals, indicating that elite status was passed down through interconnected family lineages. The study also sheds light on the role of elite women in Scythian society, suggesting that women held high social status.
Researchers at Nara Institute of Science and Technology developed a practical, non-genetically modified brewing yeast that produces over nine times higher intracellular ornithine levels than the original yeast. The improved yeast retained normal brewing performance, making it suitable for value-added fermentation.
A new European alliance aims to build a continent-wide system using genomics for protecting biodiversity, combining DNA barcoding and genome sequencing. The initiative will enable efficient collaboration and interoperability in biodiversity research.
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 new DNA test offers a much more complete picture of DNA than current standard diagnostics, leading to a diagnosis more often. The test can replace fifteen other tests, making it faster and more efficient for rare genetic disorders.
A genomic study reveals koalas experienced a severe population decline around 100,000 years ago due to climate change and habitat loss. This finding overturns earlier studies that suggest human arrival led to the decline.
A CDC study found that most NDM-CRE cases were caused by a few high-risk strains, primarily from Klebsiella pneumoniae and Escherichia coli. The discovery of new high-risk clones highlights the importance of genomic surveillance to catch emerging threats early.
A new method for sequencing hantaviruses improves on existing strategies by generating whole-genome data from low-viral concentration samples. The approach, developed by Janet Manson and colleagues, has already proven useful in the field and shows promise for expanding to other viruses.
Davis Joseph's groundbreaking discovery identifies three universal cancer types based on protein and RNA malfunction, paving the way for an organ-agnostic treatment. The research also developed a unified apoptosis network flowsheet, comprising approximately 100 pathways, which can be applied to various cancers.
Researchers at UT MD Anderson Cancer Center have made significant advancements in cancer care, including the development of a targeted RAS inhibitor therapy for pancreatic cancer and a biomarker of chemotherapy resistance in relapsed lung cancer. The studies also explore the tumor microenvironment of triple-negative breast cancer and i...
Researchers mapped CHD variant landscape in Asian population, identifying 11 overlapping candidate genes and 25 novel genes associated with abnormal cardiovascular phenotypes. The study highlights the importance of genetic testing and counseling for birth defects in Chinese populations.
Researchers developed a 13-gene panel and machine learning model to predict TNBC patient responses to chemotherapy, identifying macrophage subtypes associated with treatment outcomes. The study provides novel insights into the gene-expression programs and tumor microenvironment of early-stage triple-negative breast cancer.
Researchers have identified a long non-coding RNA gene, PTCHD1-AS, as a contributor to increased likelihood of Autism Spectrum Disorder (ASD) in males. The study found that deletions within this gene influence social interaction and repetitive behaviors without affecting cognition.
A new study reveals that four specific genes are crucial for the Atlantic herring's adaptation to low salinity in the Baltic Sea. The genes, expressed in sperm, eggs, and early embryos, enable the fish to reproduce successfully in brackish water.
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.
Scientists have discovered a new rare genetic disease caused by a mutation in the RPN1 gene, which affects glycosylation and leads to protein instability. The disease, now termed RPN1-CDG, is characterized by neurodevelopmental issues and has expanded the number of genes associated with OST complex diseases.
Researchers have developed a new single-cell technology called CIPHER-seq that captures the timing of cytokine activity with greater accuracy. This allows for a clearer view of immune cell behavior and strengthens the foundation for understanding cancer, inflammation, and treatment resistance.
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 new study by Harvard T.H. Chan School of Public Health found that Anopheles darlingi mosquitoes are evolving to evade insecticides, threatening malaria control efforts in South America. The study sequenced complete genomes of over 1,000 mosquitoes across six countries and identified resistance-related genes.
Researchers sequenced the Great Basin bristlecone pine genome, revealing genes associated with disease resistance and longer telomeres, potentially holding clues for understanding longevity in other species. The study provides a reference genome sequence that can be used to inform modern genetic discovery.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.