Articles tagged with Genome Sequencing
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.
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 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.
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.
A hospital-based outbreak detection system has been shown to prevent infections, save lives and cut costs. The Enhanced Detection System for Healthcare-Associated Transmission (EDS-HAT) uses genomic sequencing to analyze infectious disease samples from patients, identifying near-identical strains that flag potential outbreaks.
The Hong Kong Bauhinia Genome Project has completed a decade-long effort to sequence the DNA of Hong Kong's floral emblem, revealing 28 complete chromosomes and solving the species' parentage. The project's T2T genome assembly provides insights into genetic mechanisms underlying its vibrant blooms and ecological adaptability.
Researchers demonstrated CycloneSEQ's ability to sequence complete bacterial genomes with long-read data and hybrid assembly methods. This work has improved our understanding of microbial functions by closing gaps in genomic assemblies, particularly for complex bacterial communities.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
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.
A study published in the Journal of Medical Entomology found a gene mutation in bed bugs that may contribute to their resistance to insecticides. The researchers, led by Warren Booth, discovered the mutation in 134 unique populations of bed bugs collected from North America between 2008-22.
A new study describes a case where long-read genomic sequencing (LRS) was used to diagnose RFX3 haplo-insufficiency syndrome in a patient with autism spectrum disorder and intellectual disability. The study highlights the potential benefits of genetic testing in psychiatric care, including expediting workups for inpatient patients.
Researchers found two new types of gene clusters capable of producing large volumes of hydrogen in marine bacteria. The study suggests that the diversity in these clusters is related to speciation and ecological niches, with some species producing higher levels of hydrogen than others.
A new study deciphers ancient DNA from the Green Sahara, providing critical insights into the African Humid Period and its impact on human migration. The research reveals a unique genetic lineage that remained isolated for thousands of years, highlighting North Africa's heritage.
Scientists have developed genome sequences for five duckweed species, revealing genes behind the plant's unique traits and versatility. The research holds promise for commercial applications, including carbon capture technology and biofuel production.
Researchers discovered that a drug-resistant type of bacteria has adapted to produce antimicrobial genetic tools, eliminating its cousins and replacing them as the dominant strain. The finding validates a system developed at Pitt and UPMC for detecting infectious disease outbreaks.
A genomics blood test has improved diagnosis and treatment plans for children with rare diseases, including epilepsy. The test provides genetic diagnoses for 43% of children in under three weeks, leading to significant impacts on treatment.
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.
Researchers at Johns Hopkins University have discovered genes that control fruit size in tomatoes and eggplants, opening up opportunities for new varieties and improved agriculture. The study could lead to the development of larger, more nutritious fruits, and has significant potential for global food security.
Researchers analyzed DNA of 370 individuals from 800 years, revealing genetic ties between Huns and Xiongnu Empire. The study found a small but distinct set of individuals carrying East Asian genetic signatures, suggesting some Hun-period individuals in Europe traced their lineage back to late Xiongnu burials.
A team of scientists has developed a cutting-edge technology to analyze bacterial sexually transmitted infections (STIs) using genome sequencing. The 'target enrichment' method enables high-resolution analysis of Chlamydia trachomatis and other pathogens, revealing new insights into their transmission and development pathways.
Researchers developed a powerful tool to detect SARS-CoV-2 variants with high transmission potential, pinpointing exact mutations driving spread. The model focuses on spike protein and other parts of the virus, enhancing ability to bind human cells and evade immune systems.
Scientists from Gladstone Institutes developed a new method called RASAM, which made a surprising discovery that large sections of newly formed DNA are hyperaccessible for many hours. This finding holds important implications for basic understanding of biology and the development of new medicines.
A new study explores how city life is influencing the evolution of urban coyotes, revealing genetic changes related to diet, health, thermoregulation, behavior, cognition, and reproduction. The research also highlights the challenges of studying urban coyotes, which are increasingly common in urban areas throughout the US.
Researchers have successfully used long reads to identify the genetic causes of rare diseases in 93% of cases, surpassing traditional short read techniques. The technique, which can map methylation and sequence longer DNA segments, has shown promising results in detecting complex genetic mutations.
Researchers have reconstructed the evolutionary origin of the complex configuration of multiple sex chromosomes in echidnas using their nearly gapless genome sequence. The high-quality data helped trace genetic events that led to this remarkable chromosomal arrangement, including chromosome fusion and fission events.
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.
A new whole-genome study challenges the long-held belief that Armenians are descendants of Phrygian settlers from the Balkans. Instead, researchers found a genetic input into the region from Neolithic Levantine farmers, suggesting a large-scale post-Early Bronze Age migration wave across the Middle East.
Two studies found that multidrug-resistant Enterobacterales, particularly Escherichia coli ST131 and Providencia stuartii NDM-1, are spreading in healthcare and community settings across Europe. The emergence of these resistant bacteria poses a significant threat to carbapenem treatment effectiveness.
The study reveals large genomic differences between European aurochs, North Asian aurochs, and South Asian ancestor, with evidence of human intentional feeding and targeted domestication. The genome of the central European aurochs was fully decoded for the first time, providing insights into the history of wild cattle in Europe and Asia.
Researchers from The University of Texas at Arlington are conducting a DNA analysis project to determine the genetic differences between the rare Dixon's whiptail and the common checkered whiptail. If the two species are found to be distinct, Dixon's whiptail may become eligible for endangered species protection.
A national study found that genomic sequencing can diagnose mitochondrial disease in over half of patients, simplifying the diagnostic journey and sparing invasive testing. The study also identified factors that impact testing results, particularly among children.
Researchers tracked the long-term dynamics of transplanted stem cells in patients' bodies up to three decades post-transplant. They found that younger donors produce more vital stem cells, while older donors experience reduced immunity and higher relapse risk. The study provides new insights into donor selection and transplant success.