Articles tagged with Genomics
Leading scientists propose updated global guidelines to improve rare disease diagnosis using whole-genome sequence data, building on insights from Genomics England's rare disease participants. The guidelines aim to address the challenge of interpreting non-coding region variants and provide a framework for standardizing diagnoses.
The Mount Sinai Hospital has been awarded $4.2 million over five years to establish a Proteogenomic Data Analysis Center, which will help identify potential biomarkers and drug targets for cancer and new insights into cancer biology.
Quantitative disease resistance is a promising approach to combat plant diseases, which cause an estimated 13% loss of global crop yields annually. Researchers aim to identify disease resistance mechanisms for important corn diseases and develop genetic resources for the broader maize genetics community.
The California Conservation Genomics Project is generating high-quality data to inform conservation policy, mapping genetic diversity across the state's diverse ecosystems. By analyzing over 22,000 genomes, researchers aim to identify critical habitats for protection and create a snapshot of genomic biodiversity.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
A novel single-cell RNA sequencing technique, TAS-Seq, has been developed to provide higher-precision data than current methods. The new method detects more genes and identifies highly variable genes, making it a sensitive high-throughput scRNA method.
Genomics offers vital support for reversing ecosystem decline by improving seed sourcing practices under climate change and screening for threatened species. The technology also enables the detection of invasive weeds and animals, as well as tracking of soil microbes that support life on earth.
Scientists discovered a new species of giant filamentous bacterium, Thiomargarita magnifica, with DNA clustered within membrane-bound compartments. This unique organism challenges traditional understanding of bacterial morphology and genomic complexity.
Researchers analyzed DNA of Demodex folliculorum mites living in human hair follicles, finding unusual body features and behaviors due to their isolated existence. The study suggests these mites may transition from external parasites to internal symbionts as they shed unnecessary genes and cells.
Researchers studied ant brains using single cell technology, revealing functional specialization and complementary brain cell composition differences among individuals. The study found specialized neurons for learning and memory in worker ants and optic lobe cells in male ants.
Ancient DNA analysis reveals that an epidemic devastated a local community in Kyrgyzstan in 1338 and 1339, linked to the Black Death. The study suggests that the Black Death's ancestor originated in Central Asia, close to Lake Issyk Kul.
Scientists have identified the DOMINANT AWN INHIBITOR (DAI) gene in sorghum, which regulates the absence and shortening of awns. The gene encodes a protein that negatively regulates awn formation as a transcription factor, with implications for breeding modern awnless cultivars.
Researchers from Uppsala University have identified new inherited retroviruses in the koala genome, including novel ERV lineages related to the squirrel monkey retrovirus. These findings provide a potential model for studying retroviral establishment and health effects in real-time.
Researchers from OIST developed a PCR test that detects nine sex-determining genes in Okinawa mozuku germlings, enabling the identification of male and female haploid and diploid stages. This allows for crossbreeding to create heat-tolerant strains, improving yields and addressing issues with detachment and contamination.
Researchers analyzed 16 ancient genomes from Wallacea, revealing striking differences between regions and a previously unknown ancestry contribution from Mainland Southeast Asia. The findings suggest multiple human dispersals into Wallacea and major implications for the understanding of Neolithic dispersals into Island Southeast Asia.
A genetic variant in nearly 30% of Greenlanders is linked to high cholesterol and an increased risk of cardiovascular disease. The variant, p.G137S, has a marked population-level impact, increasing the risk of high cholesterol and cardiovascular disease for up to 30% of the Greenlandic population.
Researchers identify genetic determinants of immune phenotypes in type 1 diabetes, highlighting 11 genes as potential candidates for new treatments. Genetic variants affecting T-cell composition and cytokine production were found to be significantly involved in the disease.
A new study finds that polar bears and brown bears have a complicated evolutionary history due to interbreeding. The analysis of modern bear genomes and ancient DNA from a 115,000-year-old tooth reveals gene flow from brown bears into polar bears, challenging previous hypotheses.
Researchers studied meiotic cohesin complexes' effect on chromosome structure and genomic integrity in embryonic stem cells. Maintaining adequate levels of REC8 and STAG3 factors ensures chromosomal stabilization and sister chromatid cohesion.
A team of researchers has identified the ancient bird species behind giant prehistoric eggs in Australia, resolving a years-long debate. The study found that the eggs belonged to a unique duck-like line of megafauna known as the 'Demon Ducks of Doom', which was laid by the Genyornis newtoni bird.
Researchers linked high mutation rates in children to errors in the biological father's sperm cells. Eight of 12 families with hypermutation were traced back to their fathers' chemotherapy treatments. These cases highlight the need for further investigation and potential measures, such as sperm freezing before treatment.
An international team led by BGI-Research has produced the first spatiotemporal maps of cellular dynamics in mice, Drosophila, zebrafish, and Arabidopsis using Stereo-seq technology. This breakthrough enables scientists to analyze the distribution and placement of molecules and cells in situ and over time.
Researchers have mapped altered protein-protein interactions resulting from cancer-causing mutations, identifying potential targets for anticancer drugs. The study reveals how specific mutations can rewire the cell's interaction machinery, leading to oncogenic programs.
Researchers have used a data-sharing innovation to categorise 16 uncertain BRCA variants as benign or likely benign, potentially allowing women with these variants to skip invasive surgeries. This could lead to thousands of people avoiding difficult treatments for no reason.
Researchers identified one to three major genes influencing flowering time in chickpea's wild relatives, enabling locally adapted varieties with improved drought and heat tolerance. This breakthrough study, published in Agriculture journal, will aid future breeding efforts and explore genetic variation for flowering time.
A new study found that Black kidney transplant recipients exhibit a faster clearance rate of tacrolimus, an immunosuppressive drug. The study suggests that considering both sex and race when dosing tacrolimus may reduce adverse effects and enhance transplant outcomes.
Researchers found that different animal species, including humans, mice, giraffes, and tigers, accumulate similar numbers of genetic changes over their lifetime. The study supports the theory that somatic mutations play a role in ageing, with longer lifespan species experiencing slower mutation rates.
The study provides a single-cell transcriptome map of 45 tissues and organs from long-tailed macaque monkeys, identifying 113 major cell types. This will improve the ability to pinpoint how to develop potential treatments for human diseases with greater precision.
The UNC Charlotte team developed a universal AI algorithm called AutoClass to clean noisy single-cell RNA sequencing (scRNA-Seq) data. The algorithm effectively removes noise and enhances downstream analysis in multiple aspects, demonstrating its robustness and scalability.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
Researchers found that mutation frequencies in mitochondrial DNA of developing egg cells are lower and increase less with age compared to non-reproductive cells. This suggests a protective mechanism may keep reproductive cells relatively stable, potentially related to human propensity to reproduce at later ages.
A multidisciplinary team analyzed ancient DNA from the Carpathian Basin to reveal clues about the Avars' origins. The research found that the Avar elites had ancestry from Northeast Asia and the North Caucasus, suggesting a rapid trans-Eurasian migration
Researchers developed a new method, EpiDamID, to analyze single cells and determine the location of modified proteins around which DNA is wrapped. This technique helps understand how PTMs affect gene expression and has implications for early development and disease research.
The new T2T reference genome adds nearly 200 million base pairs of novel DNA sequences, including 99 genes likely to code for proteins. This completes the first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
The study evaluates genetic diversity of Channel Island deer mice before and after invasive black rat colonization and eradication. It aims to determine if native rodent conservation is a viable strategy for controlling invasive species
Scientists have deciphered the helmeted honeyeater's genome and created a genetic map to guide advanced genetic rescue methods. The new tools allow for precise breeding decisions, reducing inbreeding and its negative impact on population health.
Researchers developed a transgene-free method to convert human pluripotent stem cells into 8-cell totipotent embryo-like cells, paving the way for advances in organ regeneration and synthetic biology. These cells can be used to regenerate human organs, study human embryonic development, and prevent pregnancy loss.
Researchers mapped the Australian black tiger prawn genome to improve farming productivity and disease resistance. The study also uncovered a unique Endogenous Viral Element (EVE) that helps fight viral infections in prawns.
A study reveals that new bird species arise in lowland habitats before moving higher into mountainous areas, where genetic differences accumulate. The research suggests that climate fluctuations, particularly during the Pleistocene era, contributed to the evolution of these high-altitude populations.
Researchers studied Indriidae lemurs to understand the impact of climate, body size, and color vision on hair evolution, providing a unique window into human hair evolution. The study fills gaps in our understanding of human evolutionary story by comparing non-human primate hair patterns.
A new molecular study of grasses reveals a clear picture of their evolutionary relationships, shedding light on the evolution of C4 photosynthesis involved in heat and drought tolerance. The research provides evidence that this type of photosynthesis evolved independently multiple times within different grass lineages.
A COVID-19 genetic risk variant inherited from Neandertals reduces the risk of contracting HIV by 27%. This variant is associated with fewer CCR5 receptors, which can lower the risk of HIV infection.
A recent study has identified 29 new genetic variants associated with acne, providing potential new targets for treatment and helping clinicians identify individuals at high risk of severe disease. The research, involving over 20,000 individuals with acne, also found a link between genetic risk and disease severity.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A groundbreaking genome-wide association study identified 123 genetic regions linked to migraine risk, including two specific genes targeted by recently developed drugs. The study provides insight into the biological basis of migraine and its subtypes, paving the way for new treatments.
Researchers used 3D mini-brain models to study the effects of three autism risk genes on neural formation and development. The study found that despite unique molecular mechanisms, the genes converged on affecting specific types of neurons, suggesting potential therapeutic targets for autism treatment.
Researchers at Children's Hospital of Philadelphia used deep learning to analyze whole genome sequencing data from African American patients with mental disorders. The model demonstrated over 70% accuracy in distinguishing between disorders and identifying multiple disorders.
A study published in Nature Microbiology reveals that a class of microbial enzymes contributes to ulcerative colitis. Researchers identified an overabundance of proteases from the gut resident Bacteroides vulgatus in nearly 40% of patients, which can exacerbate the disease when not treated with protease inhibitors.
A new study published in Genome Research has identified a group of genes that play a crucial role in building cellular components and may contribute to human longevity. Inhibiting these genes may increase lifespan by reducing their impact on the body later in life.
The new BD CellView Image Technology enables high-speed sorting of individual cells based on detailed microscopic analysis, accelerating discovery research in immunology, cell biology, and genomics. This technology has the potential to unlock new cell-based therapeutic discoveries and transform various fields of biomedical research.
Researchers developed reference materials with known viral loads to standardize PCR test results. The study found that Ct values varied among labs, highlighting the need for reference materials to compare and standardize results.
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
Researchers found patches of low mutation rates in the genome with essential gene over-representation, suggesting a protective mechanism. This discovery could lead to advances in plant breeding and human genetics, potentially helping breed better crops or fight cancer.
A study by USF Genomics program found that prenatal exposure to the Rwandan genocide was associated with epigenetic modifications in genes linked to mental disorders. These 'chemical' changes can have a rapid response to trauma across generations, suggesting a possible link between historical trauma and modern-day mental health issues.
Scientists have analyzed the lychee genome to uncover its ancient history and identify genetic markers for breeding programs. The study found that lychees were domesticated independently in two regions of China, Yunnan and Hainan, leading to early- and late-maturing varieties.
Researchers developed a new method to complete genetic data gaps using haplotype blocks, improving breeding efficiency in plants. The approach has shown comparable quality to collecting more information from DNA strands, reducing costs in animal and plant breeding.
Researchers have identified genes associated with spinach's resistance to downy mildew and its levels of oxalates. The findings could help breeders produce disease-resistant varieties with more consumer appeal, improving spinach's market prospects.
The study developed a new strategy to sequence thousands of bacterial isolates with collaborators from economically-challenged countries, aiming to make genomic data more accessible. The 10,000 Salmonella genomes research consortium sequenced and analysed 10,000 Salmonella genomes from Africa and Latin America, strengthening global res...