Articles tagged with Genomics
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.
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.
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 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.
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.
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
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...
Researchers at JGI have developed a new protocol to study the effects of genetic variations on traits, using DNA affinity purification sequencing technology. The protocol allows for rapid capture of transcription factor binding locations in the genome, providing insights into gene regulation and function.
A new study examines the genetic basis of longevity in Galápagos giant tortoises and finds that these animals have extra copies of genes that may protect against aging and cancer. The creatures' cells respond to stress in ways that could help prevent disease.
A single-cell chromatin atlas for the human genome reveals how genes are turned on or off in different cells, a major step toward understanding the connections between genetics and disease. The findings identify disease-trait-relevant cell types for 240 multi-genic traits and diseases.
Researchers from the University of Rochester have further evidence that genes are evolving defensive mechanisms to counteract harmful genetic elements. The study found that specific genes developed weapons-like structures to combat 'parasites' in the human genome, highlighting the ongoing 'arms race' between these two forces.
New research enables regionally relevant eating-quality traits to be selected early in breeding programs, saving time and effort. Genetic markers associated with 10 grain-quality traits have been identified, which can now be used by rice breeders in Latin America and potentially worldwide.
A new machine learning model developed by Timothy Chan accurately predicts whether immune checkpoint blockade will be effective in patients with various cancers. The tool assesses multiple patient-specific factors, including tumor mutational burden and chemotherapy history, to predict response and survival outcomes.
A genomic study of the Tarim Basin mummies in western China found that they were direct descendants of a once widespread Pleistocene population known as Ancient North Eurasians. The mummies show no evidence of admixture with other Holocene groups, forming a previously unknown genetic isolate.
A study by EPFL researchers reveals that CTCF sites within the HoxD cluster contribute to organizing genes into topologically associated domains, helping to organize developmental complexity. The dual function of CTCF binding sites varies depending on tissue type.
Researchers at Osaka University analyzed data from over 200 health-related traits and diseases in an Asian population to identify specific genomic loci related to medical indications. The study found 14,000 genomic loci of phenotypic significance, including 5,000 novel discoveries.
A retrospective study demonstrates that AI-powered Fabric GEM algorithm can detect over 90% of disease-causing variants in infants with rare diseases using whole-genome and whole-exome data. The algorithm also ranks specific genes associated with these variants, assisting clinicians in diagnosis.
Researchers identify key neurons and signaling pathway regulating female activity before ovulation. Discoveries could lead to new treatments for menopause that sidestep estrogen and reactivates the circuit with CRISPRa technology.
Researchers developed an integrated framework combining single-cell and metagenomics to characterize microbes. The approach showed higher accuracy and precise binning, revealing more bacterial genera and intra-species diversity.
A UCL-led research team has identified an anti-viral gene that increases the risk of both Alzheimer's disease and severe Covid-19. The study found that a specific variant of the OAS1 gene amplifies inflammation in the brain, highlighting the importance of the immune system in both conditions.
Researchers analyzed genetic expression profiles of developing brain cells, finding that early tissue holds a pre-set map that develops into the cerebral cortex's characteristic topography. A new method for predicting cell fate has also been established, using chromatin structure to determine lineage before gene expression is possible.
Researchers create detailed atlas of mouse cerebrum, revealing distinct cell types and gene regulatory elements. The study provides insights into brain organization and function, with potential implications for human neurological diseases and traits.
Researchers sequenced genomes of 90 Eastern massasauga rattlesnakes and found that potentially damaging gene mutations were less abundant. This suggests that inbreeding might not be as detrimental as theory predicts, as beneficial mutations can easily purge bad ones. The study's findings could influence management decisions.
Recent genome research has led to significant progress in understanding human evolution, cancer, polygenic traits, and functional genomics. New laws and technologies are also being developed to balance privacy and public safety, enabling the use of consumer genetic data in law enforcement investigations.
A new study using Neanderthal fragments suggests that generation intervals have fluctuated over the past 40,000 years, with human life history changing in response to environmental and cultural factors. The research found that Eurasian populations reproduced at a younger age than those in Europe, indicating a difference of 3-5 years in...
Researchers analyzed ancient DNA from victims of epidemics in Mexico and found evidence of newly introduced viruses, including smallpox, measles, and mumps. The study suggests that European colonists brought these viruses to North America, contributing to devastating epidemics among Indigenous communities.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
Researchers discovered azole-resistant Aspergillus fumigatus strains isolated from a tulip bulb have genetic recombination and resistance to multiple fungicide classes. Plant bulbs serve as an ideal niche for the pathogens to evolve their resistance, posing a global health threat.