Articles tagged with Human Genomes
A recent study by an international team of scientists has clarified the frequency and influence of mosaicism in genomic disorders. Mosaicism was found to be much more common than previously thought, contributing significantly to recurrence risk in future offspring.
A study published in Global Heart explores the prevalence of atherosclerosis across ancient populations, revealing that genetic susceptibility is present in all cultures. Environmental factors such as diet, lifestyle, and physical activity play a crucial role in determining when and how quickly atherosclerosis develops.
Researchers have identified over 100 locations in the human genome associated with the risk of developing schizophrenia, pointing to genetic variations that make people vulnerable to psychiatric disease. The study's findings could lead to new approaches to treating the disorder and inform drug development for acute need.
Researchers have identified over 100 genetic locations associated with schizophrenia risk, revealing biological pathways that could inform new treatment approaches. The study expands understanding of the disorder's genetic basis and underlying biology.
Researchers analyzed the marmoset genome, revealing insights into primate biology and evolution. The study highlights the importance of mobile elements in shaping the primate genome.
The study reveals genetic changes associated with twinning in marmosets, including the WFIKKN1 gene that may act as a critical switch between multiples and singleton pregnancies. Marmosets also exhibit unique social behavior, where relatives care for offspring while reproductively suppressed.
Researchers developed a new genome editing method, TALEN-HDAdV, which increases gene-correction efficiency in human induced pluripotent stem cells. This technology has the potential to model human diseases and develop cell replacement therapy, offering hope for treating genetic diseases.
Researchers have established a comprehensive catalog of the human gut microbial genes, with over 9.8 million genes available for global researchers to explore. The study highlights differences in nutrient metabolism and xenobiotic detoxification between Chinese and Danish adults, as well as enrichment in antibiotic resistance genes.
A CNIO team updates the number of human protein-coding genes to 19,000, with almost all having ancestors prior to primate evolution. The study suggests that differences between humans and primates are small, and complexity lies in gene regulation and non-coding regions.
International study reveals blood product sterilization processes can prevent platelets from carrying out their functions correctly, potentially leading to hemorrhages. The processes alter the genetic material of pathogen-reducing treatments, depleting platelets of RNA and impairing their ability to synthesize essential proteins.
Researchers at Johns Hopkins Medicine have cataloged over 17,000 human proteins from 30 different tissues, identifying 193 novel proteins not previously known to exist. This comprehensive dataset provides a solid foundation for speeding up biological research and diagnostic development.
A recent study suggests that the evolution of human brain and brawn are intertwined. Human muscle accumulated more metabolic change than chimpanzees, while the human brain metabolome evolved four times faster. These findings may hold clues to common human metabolic diseases.
Researchers at McGill University discovered that the shape of a leukemia cell's genome holds a key to solving the puzzle of human diseases. The study validates a new approach for classifying human disease using 3D genomics, which may improve personalized treatment.
Researchers have discovered that retrotransposons, or viral elements incorporated into the human genome, are essential for maintaining the ability of stem cells to differentiate into many different types of body cells. The study found that degrading these transcripts causes iPS cells to lose their pluripotency and differentiate.
Researchers have sequenced the tsetse fly genome, revealing genetic adaptations that enable it to transmit diseases such as sleeping sickness and Nagana. The study provides a valuable resource for developing prevention strategies to reduce deaths and illness associated with these diseases.
Chinese researchers have discovered several key genetic mutations closely associated with adrenocortical tumors, including the activating hotspot L205R mutation in PRKACA gene. These findings provide new insights into the clinical diagnosis and treatment of Adrenal Cushing's syndrome.
Researchers have mapped the human genome's regulatory network, identifying promoters and enhancers that control gene expression in different cell types. This breakthrough provides insights into human evolution and the diversity of cell types, paving the way for new technologies and applications.
Researchers developed SIF-seq to identify mammalian enhancers, which amplify specific gene expression, and validate ChIP-seq results. The technique offers a higher-throughput functional assay for various cell types and developmental contexts.
Research suggests that natural selection has altered European appearance over the past 5,000 years, with ancient DNA revealing darker skin, hair, and eye pigmentation. This phenomenon is comparable to other examples of adaptive evolution, such as malaria resistance and lactase persistence.
Tibetans' genetic adaptations for high-altitude living were shaped by a mixture of two ancestral gene pools, one migrating early to high altitude and the other acquiring advantageous alleles from resident populations. This process, known as admixture-facilitated adaptation, was driven by natural selection.
Researchers have found a way to efficiently edit the human genome one letter at a time, boosting ability to model human disease and paving the way for therapies that fix genetic 'bugs'. The new technique highlights out-of-the-box thinking critical for scientific success.
Researchers have developed a new method to rank disease-causal mutations within whole genome sequences, providing a more comprehensive approach to identifying genetic variants linked to disease. The Combined Annotation-Dependent Depletion (CADD) method assigns scores to mutations across the entire genome, not just protein-coding regions.
Scientists have identified a potential treatment mechanism for the EV71 virus, which causes severe brain swelling and paralysis in children. The discovery was made by creating antibodies that can neutralize the virus by inducing genome release, rendering it non-infectious.
Researchers found that Neanderthal DNA is associated with genes affecting type 2 diabetes, Crohn's disease, and lupus. Additionally, they discovered that certain areas of the modern non-African human genome are rich in Neanderthal DNA, suggesting potential benefits for human survival.
Researchers found that humans in east Asia have more of their genome originating from Neanderthals than Europeans, while Africans have little or none. The genetic changes most often inherited from Neanderthals were disproportionately in genes related to keratin, a component of skin and hair.
Scientists have decoded the genome of Necator americanus, a blood-sucking parasite that infects an estimated 700 million people worldwide. The research reveals clues to how the worm invades and survives in humans, providing valuable insights for developing new diagnostic tools and vaccines.
A Russian research team studied the link between genetic shifts and antigenic drift in influenza viruses. They found that reassortments lead to increased rates of point mutations, which can result in highly virulent strains. This study may aid in predicting future flu outbreaks.
The elephant shark genome reveals insights into bone formation and adaptive immunity in humans, with potential implications for treating bone diseases. The study also found that the elephant shark's immune system is surprisingly robust despite lacking certain cell types.
Researchers have sequenced and analyzed the elephant shark genome, comparing it with human and other vertebrate genomes. The study found that sharks lack certain types of immune cells and exhibit robust immune defences despite this, and also revealed why cartilage prevails in their skeleton over bone.
Researchers have sequenced the elephant shark genome, providing new insights into bone formation and adaptive immunity. The study reveals a family of genes essential for bone development and identifies a lack of immune cells in sharks, despite robust immune responses.
Researchers discovered the largest example of horizontal gene transfer in any organism, where <i> Amborella </i> acquired foreign genes from green algae and other plants. The study provides insight into the evolution of mitochondrial fusion and its role in horizontal gene transfer.
Researchers at the University of Washington have discovered a second code hidden within DNA that instructs cells on how genes are controlled. This finding has significant implications for interpreting genome data and diagnosing diseases.
The CompGen initiative brings together top faculty in genomic and computational sciences to analyze trillions of nucleotides and better understand the human genome. The facility will enable more accurate and efficient analysis of DNA, incorporating visualization components to visualize genetic data in real time.
Researchers at Clemson University identified two regions in the chicken genome associated with congenital deafness and spine deformities in humans. The Araucana breed's unique ear tufts and rumplessness provide a model for studying human genetic mutations.
A genetic variant in the IRF4 gene is linked to reduced melanin production, leading to increased UV radiation sensitivity and conditions like freckling. Researchers also explore the role of epigenetic variation in this trait.
Researchers at the Buck Institute identified a suite of epigenetic markers that separated younger from older individuals, with changes associated to genes regulating neuromuscular junction activity. The study provides a method for studying sarcopenia and offers potential targets for intervention.
Researchers have discovered a direct ancestral link between ancient human remains and Native American communities, revealing insights into the initial peopling of the Americas. By analyzing genomes of ancient and modern populations, scientists can reconstruct the evolutionary history and adaptations of early Americans.
A recent study by Gladstone researchers reveals that specific stretches of DNA, called human accelerated regions (HARs), control the development of uniquely human characteristics. HARs were found to be crucial in human ancestors becoming distinct from our closest primate relatives.
A new computational method, LACHESIS, has been developed to quickly assign, order and orient DNA sequencing information along entire chromosomes. This approach can validate chromosomal abnormalities in cancer research and pave the way for low-cost, high-quality genome assemblies.
The 8th International Conference on Genomics (ICG-8) brought updates on research using affordable genomics technologies, focusing on personalized medicine, computer breeding, and open platforms. Researchers discussed disease mysteries and explored the potential of clinical trans-omics for eliminating threats.
Scientists created induced pluripotent stem cells (iPSCs) from chimpanzee and bonobo skin cells to compare with human iPSCs. They found differences in the regulation of jumping genes, which may have shaped the evolution of their genomes.
Researchers at the University of Basel have identified a new compound that reduces aversive memory, a trait central to anxiety disorders like PTSD. The compound, a known antihistamine, was found to significantly reduce memory recall of negative pictures but not neutral or positive ones.
A study of herpes simplex virus type 1 confirms the 'out-of-Africa' pattern of human migration, with African isolates clustering together and Asian viruses grouping based on sequencing of human genomes. The findings support existing analyses of human migration and provide insights into how organisms are related.
Researchers connected human complex diseases to specific genes using zebrafish models, identifying a powerful tool for unraveling rare genetic conditions. The study shows that copy-number variants can affect multiple genes simultaneously, but manipulation of individual genes in zebrafish reveals their contribution to disease pathology.
A team of researchers identified a molecular mechanism that defends the human genome against mobile DNA sequences. The study found that abnormalities in this mechanism are linked to DiGeorge syndrome, a rare disease caused by chromosome microdeletion. The research aims to develop new therapies for the disease.
Researchers have discovered an unprecedented change in the French-Canadian genomic signature over 400 years, with rare mutations accumulating at an alarming rate. This finding has significant implications for understanding population-specific diseases and conservation genetics.
Researchers found that all coding and non-coding RNAs originate at the same locations along the human genome. This discovery may help pinpoint genetic origins of complex diseases, which often reside outside coding regions.
The Johns Hopkins Berman Institute of Bioethics has been selected to establish a Center of Excellence to study the ethical, legal, and social implications of genomic research in infectious disease. The center will explore public health genomics in two case studies: pandemic influenza and Hepatitis C.
A comprehensive map of functional genetic variation in humans has been published, revealing the genetic causes of differences between individuals. The study provides powerful clues for diagnosis, prognosis, and intervention of various diseases.
A new resource, IPAC, has been launched to address the lack of international mechanisms for ensuring ethical and legal interoperability in sharing genetic information. The initiative aims to harmonize projects and provide normative tools and frameworks for accessing clinical and research data.
The National Human Genome Research Institute has awarded grants to eight research teams to explore nanopore-based DNA sequencing technology. This approach involves threading single DNA strands through tiny pores, allowing for real-time sequencing of individual molecules at low cost.
Researchers aim to understand factors that make immune cells target the spinal cord and brain, leading to multiple sclerosis (MS). The study will determine the function of specific T cells, how they are generated, and how they can be regulated in model systems of MS and humans.
The University of Texas at Arlington is assembling a computer-based genome to aid in the design and development of advanced new materials. The team aims to create extremely hard and high-temperature resistant coatings for advanced materials using current and new methods.
A study published in the American Journal of Human Genetics found that whole-genome sequencing can identify genetic mutations associated with chronic mountain sickness. Researchers sequenced the genomes of Andean individuals and identified two genes, ANP32D and SENP1, which play a key role in hypoxia tolerance.
Researchers from The Mount Sinai Hospital have developed a new strategy to safely study deadly influenza viruses, including H5N1 bird flu. By harnessing the power of human lung cells, they create 'viral scissors' that can cut these viruses into pieces, preventing effective transmission to humans.
Researchers at the University of Washington published a comprehensive portrait of the genome of HeLa cell line, shedding light on its unique replication properties and stability. The study also highlights the importance of haplotypes in characterizing cancer genomes and epigenomes.
A novel approach has been developed to scan the entire genome, allowing researchers to better understand the effect of genetic variants on protein translation. This method could lead to the development of biomarkers for personalized medicine and new therapies for complex diseases such as diabetes and schizophrenia.
Researchers at St. Laurent Institute discovered 'dark matter' in the human genome that functions in cancer biology and cell death. VlincRNAs triggered by ancient viruses may regulate gene expression in cancer cells, making them a potential target for therapy and diagnostics.
Human cells respond in healthy ways to eudaimonic well-being but in unhealthy ways to hedonic happiness. Research found a significant decrease in stress-related gene expression profiles for those experiencing eudaimonic well-being, while hedonic well-being was linked to an increase.
A new UCLA study found that different types of happiness have surprisingly different effects on the human genome. People with eudaimonic well-being showed favorable gene-expression profiles in their immune cells, while those with hedonic well-being showed an adverse profile.