Articles tagged with Human Genomes
Researchers used machine learning to generate high-quality synthetic human genomes without real human donors, addressing accessibility barriers in genomic research. The generated genomes mimic real human populations' complexities and can serve as proxies for underrepresented populations.
The Human Genome Project has enabled millions to access their personal genomic information, but diversity gaps persist in clinical trials. Experts call for increased Indigenous participation, open data sharing, and multidisciplinary approaches to address biases and develop polygenic risk scores for diverse communities.
The researchers have developed a high-precision reference sequence, JG1, constructed from the genomes of three Japanese individuals using next-generation sequencing technologies. This will enable efficient investigation of causal genetic variants for rare diseases and cancer driver genes in Japanese populations.
A high-resolution 3D chromatin structure map of the macaque fetal brain has been constructed, revealing human-specific chromatin structural changes. These changes include 499 human-specific TADs and 1266 human-specific loops, which are enriched with enhancer-enhancer interactions.
Researchers at Boston University School of Medicine have identified genetic dependencies in tumors that have undergone whole genome doubling. The study found that WGD tumor cells possess unique vulnerabilities that can be targeted by new therapeutics.
The study reveals that many virus-like insertions may remain undiscovered in animal genomes, highlighting the need for further research on endogenous RNA viruses. Machine learning was used to detect sequence patterns characteristic of endogenous RNA viruses in the human genome.
A new statistical method called GLIMPSE allows for the inference of complete human genomes from small amounts of data, providing a cost-effective alternative to current approaches. This enables researchers to analyze understudied populations and uncover associations in complex traits such as Alzheimer's disease, cancer, and obesity.
The Ukraine genome survey found over 13 million genetic variants, including medically relevant mutations linked to breast cancer, autism, and rare eye diseases. The study shows Ukraine accounts for a quarter of European genetic variation, providing valuable insights into human history and disease prevention.
Researchers report a shift towards endemism in Tasmanian devil facial tumor disease (DFTD), a fatal transmissible cancer threatening the species' extinction. The study suggests DFTD may go extinct or coexist with populations, reducing the threat of extinction.
A new selective DNA sequencing method called ReadFish enables rapid analysis of human genomes, potentially leading to faster diagnosis of genetic conditions. This breakthrough could have major implications for understanding and treating diseases such as cancer.
New research by BIDMC sheds light on genetic risk factors that make individuals more or less susceptible to severe COVID-19. The study identifies two regions of the human genome linked to disease severity and suggests potential therapeutic targets.
The Zoonomia Project has released a vast dataset of over 80% of all mammalian families, spanning 110 million years of evolution. This dataset captures mammalian diversity and includes genomes from endangered species.
A new genome alignment tool called Progressive Cactus has enabled major advances in understanding the evolution of birds and mammals. By aligning over 600 vertebrate genomes, researchers have gained a detailed view of how species are related to each other at the genetic level.
A Dutch study found that SARS-CoV-2 transmission occurs between humans and minks, as well as within mink populations. The virus was initially introduced by humans, evolving over time.
The study aims to assess the prevalence and attitudes towards workplace genomic testing in diverse workplaces, as well as employees' interest and objections to such testing. The research team will analyze employers' perspectives, employee responses, and potential issues related to genetic privacy and discrimination.
Researchers uncovered the SARS-CoV-2 genome's 'origami' structure, revealing long-distance RNA interactions critical for replication. This discovery could lead to targeted therapeutics and inform new treatments for COVID-19.
A recent study published in Cell reveals that CRISPR/Cas9 genome editing can lead to undesirable outcomes, including the elimination of entire chromosomes or large sections in human embryos. The research warns against premature clinical application of this technology until further development and testing are conducted.
Newly sequenced ancient dog genomes show a long shared history with humans, with dogs diverging from wolves around 11,000 years ago. The study reveals multiple dog lineages worldwide by this time, and genetic links to human migration patterns.
The National Human Genome Research Institute has published its 2020 Strategic Vision, which describes cutting-edge research priorities and opportunities in human genomics. The vision identifies four focus areas: guiding principles, sustaining and improving genomic research, breaking down barriers, and compelling biomedicine projects.
The CRISPR Journal announces its October 2020 issue, featuring expert reactions to the National Academies' Heritable Human Genome Editing report. The journal also presents a comprehensive survey of global laws and regulations on hereditary human genome editing, highlighting both countries that prohibit and permit such research.
Researchers have mapped 90% of the human proteome, revealing key interactions between proteins that influence human health. This breakthrough has implications for understanding COVID-19 and developing precision medicine.
Researchers successfully replicated Swine Acute Diarrhea Syndrome Coronavirus (SADS-CoV) in various human cell lines, including liver, intestinal, and airway cells. This finding suggests that SADS-CoV has a broad host range and may pose a risk to human health.
Researchers analyzed gene expression in liver, heart, and muscle tissues of aging mice to define an 'aging footprint.' This data helped identify genes and proteins controlling the aging process, which may also be relevant in human aging. The study's findings have implications for understanding age-related diseases.
Recent studies in human genetics reveal insights into transcriptional regulation, gene expression, and mutation's role in shaping the human genome. These findings have important implications for understanding human health and disease, with applications in fields such as medicine and evolutionary biology.
A Case Western Reserve University researcher is working to enhance genomic privacy protections using a $1.2 million NIH grant. He plans to identify weaknesses in the genomic data sharing network and develop more complex algorithms to protect against potential threats.
Researchers identified thousands of rare epigenetic variations in the human genome, linked to abnormal gene expression and Mendelian diseases. The study highlights the significance of epivariations in contributing to a fraction of genetic diseases, including hereditary cancers.
Bioengineers at UC San Diego have discovered a new type of membrane-associated extracellular RNA, or maxRNA, that is present on the surface of human cells. This finding suggests a more expanded role for RNA in cell-to-cell and cell-to-environment interactions than previously thought.
Researchers found that elite HIV controllers have viral reservoirs located in inactive regions of the genome, known as gene deserts, which are incapable of reactivating. This unique characteristic may hold the key to achieving a functional cure for HIV by targeting active viral reservoirs.
A new study from the Max Planck Institute of Geoanthropology has reconstructed a tuberculosis genome from the calcified lungs of a 17th-century bishop, supporting the idea that TB emerged within the last 6,000 years. The discovery sheds light on the origins of TB and challenges the prevailing assumption about its global distribution.
Scientists have deciphered the ancient genome of the tuatara, a reptile native to New Zealand, revealing patterns that shed light on vertebrate evolution and genomic structure. The study's findings confirm the evolutionary position of the tuatara and provide insights into human genomes.
A new algorithm reveals evidence of interbreeding between ancient humans and their relatives, with some humans carrying DNA from an unknown archaic ancestor. The study suggests that genetic exchange occurred frequently among overlapping groups.
A comprehensive catalogue of human genome's molecular elements has been produced by the ENCODE collaboration, providing insights into potential regulatory regions. The resource will help all human biology research moving forward, particularly in understanding genetic variants and their functions.
Researchers at HudsonAlpha Institute for Biotechnology have contributed to the ENCODE Project, a decade-long effort to understand the human genome. By analyzing millions of DNA switches, they identified novel associations between transcription factors, bringing researchers closer to understanding how the human genome functions.
Researchers used a genome database to identify the cell type from which cancers derive, revealing new insights into cancer development. By comparing cancer cells to normal human cells, they found that different cancers mostly closely matched specific cell types, shedding light on their origins and tumor behavior.
Researchers from UC San Diego School of Medicine contributed to the ENCODE project, describing millions of candidate DNA switches that regulate gene expression. The study reveals novel functions for RNA-binding proteins and identifies genetic elements linked to human disease risk variants.
Salk researchers mapped DNA methylation changes over time in mice to better understand developmental disorders. The data help identify regions of the human genome that play roles in diseases such as schizophrenia and Rett Syndrome.
The ENCODE Project has added millions of candidate DNA switches that appear to regulate gene expression in humans and mice, providing a new registry for assigning biological categories. Researchers used biochemical approaches to explore the entire genome rapidly and comprehensively, identifying regions with potential functional roles.
The ENCODE project has completed Phase 3, providing insights into the human and mouse genomes' functional elements. The study identifies over 900,000 candidate regulatory elements from the human genome, shedding light on cancer biology and other topics.
Researchers identified nearly 1 million potential functional genomic elements in the human genome, which control gene expression and promote health or disease. The UMMS team's registry of these elements can be used to study links between regulatory switches and genetic diseases.
Researchers have compiled an unparalleled inventory of the human gut ecosystem by sequencing over 200,000 bacterial genomes from more than 4,600 species. The new databases reveal tremendous diversity in human guts and pave the way for microbiome research.
Researchers have developed a new technology called OligoFISSEQ that can visualize hundreds to thousands of genomes simultaneously under the microscope. This breakthrough enables researchers to study genome function and organization in unprecedented detail.
Researchers at NHGRI have produced the first end-to-end DNA sequence of a human chromosome, enabling the production of a complete human genome sequence. The achievement opens a new era in genomics research and will aid in gaining a comprehensive understanding of genome function.
Researchers have completed the first end-to-end assembly of a human X chromosome, exceeding the current human reference genome in continuity and accuracy. The breakthrough was made possible by new sequencing technologies that enable ultra-long reads, such as nanopore sequencing.
Researchers traced plant mitochondrial genomes' stability to the MSH1 gene, which exists in plants but not animals. Disrupting this gene led to increased mutations in Arabidopsis thaliana, suggesting its role in error correction machinery.
Researchers at UC San Diego develop new method to accurately compare dog age to human age, based on methyl group patterns in genomes. The formula provides a 'molecular clock' that can help evaluate anti-aging products and understand aging processes in dogs.
Researchers have developed novel APOBEC-Cas9 fusion-induced deletion systems (AFIDs) that induce precise, predictable multi-nucleotide deletions in rice and wheat genomes. The AFID system has been shown to confer enhanced resistance to rice bacterial blight.
Researchers at Gladstone Institutes and UCSF have developed a comprehensive region-specific atlas of regulatory regions linked to human embryonic brain development. The study identified 19,000 potential genetic variants critical to brain development, providing a valuable tool for probing underlying biology of neurodevelopmental disorders.
A study by researchers at the National Human Genome Research Institute suggests that genetic variants associated with familial Mediterranean fever (FMF) may confer increased resistance to the bubonic plague. The findings propose a link between FMF and protection against Yersinia pestis, the bacterium responsible for the plague.
This study defines the mutation profile of SUM in Caucasians using next-generation sequencing-based genomic analysis, identifying frequently mutated genes. The most abundant mutations were found in KIT and NRAS, while BRAF was only present in 3% of cases, providing insights into the genetics of subungual melanoma.
A genome analysis of an adult male from Newgrange passage tomb suggests he was part of a ruling social elite practicing first-degree incest. This practice is rare in human societies, typically found among elites with deified royal families.
Researchers at NIST developed a benchmark to detect large genetic mutations, which can be challenging to identify. The new method enables laboratories to measure their accuracy in detecting these mutations, reducing false detections and improving disease diagnosis.
Scientists have discovered over 120,000 novel human genetic variations affecting immune response, disease susceptibility, and digestion in diverse worldwide populations. These variations were inherited from Denisovan ancestors and include medically-important genes that can affect treatment efficacy.
Research published in Nature Genetics found that the three-dimensional structure of the human genome is essential for a rapid and robust inflammatory response. The discovery sheds light on the fundamental relationship between genome folding and cell function, highlighting the importance of architectural proteins like CTCF.
The UAP56/DDX39B protein removes DNA-RNA hybrids from the genome, ensuring correct gene expression and genomic integrity. Researchers at the University of Seville discovered this key function, highlighting the protein's importance in maintaining genome stability.
Researchers have developed a new method called redHUMAN to simplify genome-scale metabolic models for analyzing human metabolism. This approach reduces the complexity of human genome-scale models by focusing on specific parts of metabolism while minimizing information loss.
A new study compares the distribution of mutations in human tumours to those in chimpanzees and gorillas. The research reveals that human tumours accumulate mutations in regions similar to those found in non-human primates, challenging previous theories on the genetic causes of cancer.
Researchers at UC Santa Cruz developed an efficient de novo human genome assembly algorithm using the Shasta toolkit, achieving high accuracy and scalability. The algorithm can assemble a complete human genome in under six hours and costs around $70, paving the way for pangenome research to represent true human diversity.
Researchers have discovered a new gene, Sestrin1, that regulates cholesterol levels by shutting off cholesterol production in the liver when food provides enough essential nutrients. The study combines fine-grained detail from animal studies with statistical power of genetic studies involving hundreds of thousands of human genomes.
Researchers have devised a faster and less memory-intensive method for constructing pan-genome subgraphs, allowing scientists to create visualizations on different scales rapidly. The new method enables the analysis of specific genome parts in a more efficient manner.
Researchers at Clemson University have discovered that the genetic architecture of life span is context-dependent, with different genes and variants having varying effects on males and females and environmental temperatures. The study uses the Drosophila melanogaster model to provide valuable insights into human aging.