Articles tagged with Genomics
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...
A new precision genomics initiative is launching to improve pediatric cancer diagnostics and research. The BrightSeq platform aims to deliver actionable genomic findings to care teams while accelerating research through robust sample acquisition.
A study reveals faulty genomic regulation and RNA scrambling as key contributors to type-2 diabetes. Deleting HNF1A in β-cells affects the expression of over 100 genes, many involved in insulin transport and release.
Researchers found that a single amino acid substitution in the ADSL enzyme affects its stability and expression, contributing to modern human differences in behavior. The study suggests that this change may have provided an evolutionary advantage in certain tasks.
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.
Advances in endometrial cancer screening include molecular biomarkers, AI, and non-invasive diagnostics. Methylation panels show high sensitivity (>90%) and promise early detection.
Researchers uncover more clues about the risk conferred by variants in the MUTYH gene, which can cause abnormal growths and increase colon cancer risk. The study's high-throughput functional analysis method accurately sorts variants into functional and non-functional categories.
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 analyzed data from over 10,000 solid tumor samples and found that more than 90 percent contained genetic changes that could guide treatment. The study identified biomarkers associated with approved therapies and rare mutations missed by simpler tests.
Japanese scientists have identified a novel genetic mutation in Streptococcus pyogenes associated with severe invasive infections. The mutation weakens bacterial growth in human blood and has been found unique to Japanese isolates, indicating a new pathogenic mechanism.
A new study has identified genetic changes in the parasite responsible for trichomoniasis that may have helped it adapt to human hosts. The research found dozens of genes associated with key functions such as phagocytosis and exosomes, which could be exploited for future treatments.
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.
Scientists have analyzed near-complete genome sequences from 65 individuals across five continents and 28 population groups, discovering complex genetic structural variations. These variations are more likely to alter gene expression and may be linked to disease or adaptations.
Researchers identify two human brain genes that contribute to brain size and synapse signaling in zebrafish, providing a roadmap for discovering more genes. The study's findings have significant implications for understanding language disorders and autism.
Scientists successfully edited DNA directly in the brain to correct ultra-rare genetic mutations causing alternating hemiplegia of childhood. The technique improved symptoms and survival rates in mice, with implications for treating other rare genetic diseases.
The new GseaVis package offers highly customizable visualizations, including enrichment plots, ranked gene heatmaps, and circular layouts, addressing the limitations of existing tools. It integrates seamlessly with established R libraries and workflows, making it accessible to researchers at various skill levels.
A recent genetic study found that populations of the amphidromous goby Luciogobius ryukyuensis are genetically distinguishable, suggesting minimal larval exchange between islands. This highlights the urgent need for conservation efforts to protect vulnerable habitats in island ecosystems.
The National Institute of Standards and Technology (NIST) has released detailed genetic data about a pancreatic cancer cell, fostering progress in cancer research. The data can be used to research tumors, improve diagnostic tests, and develop new cancer treatments.
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.
A new tool allows researchers to probe the metabolic processes of key citrus crop, clementine, to improve yields, flavor, and nutritional value. The comprehensive genome-scale model captures Citrus clementina's metabolism with exceptional accuracy, enabling simulating economically-relevant scenarios.
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.
A new genomic study reveals that population structure in the Himalayas began over 10,000 years ago, shaping human survival in one of Earth's most challenging environments. The research identifies novel genetic variants linked to adaptation in hypoxia, metabolism, immunity, and physical activity.
Researchers have launched an open-source platform to benchmark, improve and run competitions for single-cell genomics computational methods. The platform standardizes evaluations, fosters reproducibility and accelerates progress towards open challenges in this fast-moving field.
Scientists have developed a new tool named scICE to tackle the stability problem in single-cell RNA sequencing data. The tool provides a way to validate clustering outcomes mathematically, ensuring higher confidence in conclusions drawn from single-cell data.
Researchers have identified a gene signature indicative of hepatic ferroptosis using an iron overload-induced mouse model and validated it in human liver injury systems. The study highlights the role of ferroptosis in liver injuries and offers potential therapeutic targets.
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.
Researchers have identified genetic bottlenecks that explain the emergence of pandemic cholera strains. These specific combinations of genes and allelic variants grant an advantage in human intestinal colonization, allowing a small subset of Vibrio cholerae to become deadly pathogens.
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 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.
The new resource provides a detailed map of blood regulatory variation in South Africans, enabling researchers to interpret genetic variations using genome-wide association studies (GWAS). This innovation has the potential to uncover why people from specific genetic backgrounds may be more susceptible to certain diseases.
Dr. Eric Sun's groundbreaking work uses spatial aging clocks to measure biological age at the individual cell level, identifying specific cell types that drive brain aging in neighboring tissues. His machine learning models reveal complex intercellular communication networks that determine aging rates.
Researchers at Penn State uncovered the molecular mechanisms controlling how genes inherited from the father and mother determine a honey bee larva's fate. They found that patrigenes were expressed at higher levels in queen-destined larvae, while matrigenes were expressed at higher levels in worker-destined larvae.
Researchers identified two natural products, pandorabactin A and B, produced by Pandoraea bacteria to complex iron. These molecules may play a role in the survival of these pathogens in iron-poor environments.
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.
The Human Exposome Moonshot initiative aims to map the physical, chemical, biological and psychosocial exposures driving 80% of chronic diseases. The exposome project integrates advanced technologies to create a comprehensive understanding of environmental influences on health.
A new study combines ancient DNA with dietary evidence and linguistics to paint a vivid picture of pre-colonial coastal communities in Papua New Guinea. The research highlights the influence of migrations and interactions on genetic makeup, supporting previous studies on the settlement of remote islands.
A new study found that tumors with multiple sites undergo significant genetic changes, including whole-genome duplication, when they metastasize. This led researchers to wonder why copy-number alterations are more common than mutations in metastatic tumors.
A new study analyzing ancient genomes from seven individuals in present-day Honduras provides insights into the genetic origins of the Classic Maya people and their population expansion or decline during the rise and fall of their civilization. The research contributes to our understanding of human history, population dynamics, and env...
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.
As women age, more genes on their X chromosomes escape silencing, potentially influencing disease. This epigenetic change may explain sex-based differences in age-related diseases.
ADHD researcher Barbara Franke's work transforms understanding of neurodevelopmental disorders through innovative molecular approaches. Her research combines cutting-edge bioinformatics with experimental models to identify genes and pathways underlying behavioral differences.
A recent study found that individuals with a specific type of gut bacteria (Firmicutes) had higher bone mineral density and better metabolic health. The researchers suggest that promoting the growth of butyrate-producing bacteria could be an effective strategy for maintaining bone mass and preventing osteoporosis.
A study by University of Fukui researchers reveals that two adjacent gene pairs in Neurospora crassa regulate antiviral response and symptom induction via RNA editing. The findings indicate that the modification of master transcription factor genes is crucial for controlling fungal antiviral responses.
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.
Experts uncover biological secrets of Leonardo da Vinci through 30 years of genealogical research, revealing genetic continuity of the Da Vinci male line since the 15th generation. The study also confirms the existence of a Da Vinci family tomb and analyzes DNA samples from six living descendants.
A research team has pinpointed the genetic location behind thorns in blackberries, enabling plant breeders to accelerate the creation of thornless varieties. The study used genome-wide association studies and genotyping to identify a specific region of DNA associated with the prickly trait.
The BeginNGS Consortium has welcomed Alexion, AstraZeneca Rare Disease as its first Platinum member, furthering the development of genome-informed healthcare delivery. This partnership aims to implement BeginNGS for 1,000 diseases in at least 10 countries by 2030.
An international study has sequenced 2,723 genomes from Brazil's five geographical regions, revealing over 8 million genetic variants, including 36,637 potentially harmful to health. The research provides insights into the country's demographic history and evolutionary journey.
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 Human Exposome is a global scientific effort to understand the environmental factors that underpin disease and health. The Exposome Moonshot Forum aims to chart this exposome, providing usable metrics and data points for targeted public health interventions.
A new study found that mammals with bigger brains and more complex immune systems tend to live longer. The research suggests that the immune system plays a major role in driving the evolution of longer lifespans across mammals, removing aging and damaged cells, controlling infections, and preventing tumor formation.
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.
Scientists at Boston Children's Hospital discovered that native nucleosomes contain a physical code governing their role in genome architecture. This insight could lead to new understanding of the maintenance of cellular function and the development of diseases like autoimmunity and cancer.
A review in Cancer Biology & Medicine explores the potential of AI to decode complex biological data for personalized cancer care. By integrating genomics, medical imaging, and pathology, AI excels at processing vast quantities of genomic and multi-omic data.
A new study reveals that comb jellies and other ancient animals evolved the ability to control genes from far away, over tens of thousands of DNA letters, around 650-700 million years ago. This discovery sheds light on the fundamental principles of genomic regulation that govern our cells and bodies today.
Researchers have mapped the saola's genome, revealing two distinct populations with significant genetic differences, and estimate that fewer than 100 individuals remain, raising hopes for conservation efforts through captive breeding and genetic de-extinction. The study provides new insights into the species' history and future prospects.
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.