Articles tagged with Human Genomes
A international study published in Nature has cataloged the human DNA mutation repertoire from five populations, including Europe, East Asia, South Asia, West Africa, and the Americas. The study found that approximately 15 million mutations were identified, with only about 50 arising from one generation to the next.
A large-scale genome sequencing project involving 179 people from three continents has confirmed earlier work on genetic mutations and identified new gene mutations that occur often enough to be considered common in humans. The study also discovered new mobile elements, DNA sequences that randomly reshuffle in the genome.
A team of Singaporean scientists has made a major breakthrough by discovering the most important genes in human embryonic stem cells, which are crucial for treating debilitating conditions. The researchers identified a particular gene called PRDM14 that makes it easier to turn adult cells into pluripotent stem cells.
The $1.5 million grant will fund Ben Major's work to identify functional human genes contributing to specific cellular processes, such as cancer growth and migration. The goal is to develop a low-cost approach to determine gene function in the human genome.
The NIH Director's Transformative Research Projects (T-R01) award program provides funding for exceptionally innovative research ideas that have the potential for extraordinary impact. The program allows investigators to sidestep conventional stumbling blocks and propose daring ideas.
Julie Dunning Hotopp, a UM School of Medicine Institute for Genome Sciences researcher, received a $2.5 million award from the National Institutes of Health's New Innovator program. She will study DNA transfers between the microbiome and the human genome to understand how certain infections can lead to cancer years later.
A genome-wide association study has identified a gene, MTHFD1L, associated with an increased risk of late-onset Alzheimer's disease. Individuals with a particular variation in this gene may be twice as likely to develop the disease.
Researchers led by UBC Prof. Patrick Keeling discovered a closely related parasite, E. intestinalis, with a 20% smaller genome than E. cuniculi, shedding hundreds of genes from its ends. The 'haircut' reveals insights into extreme genome evolution under specific conditions.
Researchers at Cardiff University cloned a human virus, Human Cytomegalovirus (HCMV), which is a major cause of congenital malformations and life-threatening disease in transplant patients. The cloning of HCMV has enabled the development of new treatments and vaccines against this virus.
The latest phase of the HapMap Project reveals rare genetic variants distributed unevenly among populations, with some genes under selection in different populations. The study provides a framework for future genetic studies of variation and disease, highlighting the importance of examining diverse populations.
Researchers have discovered a near complete catalog of DNA segments that copy themselves, move around, and insert themselves in the human genome. These transposon insertion locations help determine physical traits and disease risks, and may lead to new disease gene discoveries.
Researchers have created comprehensive genetic interaction maps for mammalian cells, revealing which genes work together and their roles in disease. The study, published in Genome Research, offers valuable information for research and potential therapeutic targets.
A new study by Jorge Contreras explores the 15-year struggle over data-release decisions in human genome research, highlighting a balancing act between researchers' needs and data users' rights. The study's findings have implications for various scientific fields beyond genomics, including climate change and chemistry.
Seemingly redundant portions of the fruit fly genome contribute to normal development by ensuring genes are turned on and off at the appropriate times. The discovery sheds light on the potential importance of 'junk DNA' in understanding developmental disorders.
Gerald R. Fink receives the prestigious award for his groundbreaking work on yeast genetics, enabling gene manipulation and advancing biomedical science. His discoveries have led to life-saving drugs and vaccines, as well as a deeper understanding of disease-causing fungi.
Scientists have discovered that movable sequences of DNA, known as L1 retrotransposons, are much more common than previously believed. This finding has significant implications for understanding the causes of genetic diseases.
The UK10K project will analyze the genomes of 4,000 people with extensive health data and 6,000 people with extreme obesity and other conditions. The goal is to identify rare genetic variants important in human disease and improve our understanding of genetics.
A new study reveals that nearly every newborn has a new transposon insertion in their genome, suggesting a significant increase in genetic instability. Transposons are also implicated in tumor formation and can inactivate tumor suppressor genes.
The study found that transposons are surprisingly prevalent and active in lung cancer genomes, disrupting the blueprint of the human body. Researchers predict that this variation will lead to more genetic disorders and diseases.
The sequencing of the human body louse genome reveals a surprisingly complete insect repertoire despite its obligate parasitic lifestyle. The compact genome contains 10,773 protein-coding genes and 57 microRNAs, providing valuable insights into host-parasite interactions and potential control methods.
The project has released pilot data on human genetic variation from 2,500 people worldwide. Researchers have discovered that rare variations account for much of the burden of disease in the human population.
A research team at McGill University Health Centre has developed a rapid genome sequencing process to identify genetic diseases, promising personalized treatments for patients. The new approach can isolate genes responsible for hereditary diseases within two weeks, revolutionizing the screening and treatment of genetic disorders.
Researchers have discovered variations in 10 genes associated with immune response in people with vitiligo, pointing to multiple cellular pathways contributing to the disease. The findings offer potential starting points for developing therapies tailored to individual genetic susceptibilities.
Researchers found that viruses invading the human genome millions of years ago have changed gene regulation in human embryonic stem cells. The discovery provides definitive proof of a theory proposed by Barbara McClintock and has significant implications for regenerative medicine.
A powerful new genome barcoding system has revealed large-scale structural variations in the human genome, including variations of thousands to hundreds of thousands of DNA's smallest pieces. This technology allows for a comprehensive view of the human genome and may lead to breakthroughs in disease treatment and personalized genomics.
A new study has found significant quality-control issues with genome comparison tools, which can lead to incorrect conclusions. The researchers used a large-scale dataset and found that the best-performing tool, Pecan, produced more reliable alignments than other tools.
A research team developed a way to study the effects of 125 mutations on 14 genes using zebrafish. They found that while mutations at one gene are responsible for the disorder, others can modify symptom severity and diversity.
A recent Hastings Center workshop examined the moral implications of synthetic biology, raising questions about humanity's relationship with nature. The project aims to address pressing ethical concerns in emerging technology, involving experts from various fields.
Researchers have published the first genomic collection of human microbes, discovering novel genes and proteins serving key roles in human health and disease. The analysis found nearly twice the amount of microbial diversity as represented by existing public databases.
Researchers at Purdue University discovered that lake sturgeon have genes from a parasitic worm and a protozoan parasite that causes a sexually transmitted disease in humans. This finding could lead to new methods of sex determination without harming the fish, which are endangered due to overfishing and pollution.
Researchers have sequenced the complete Neanderthal genome, discovering that up to 2% of present-day human DNA originated from Neanderthals. The study reveals genetic differences between humans and Neanderthals, including variations in genes related to cognitive development and skin morphology.
Researchers have extracted ancient DNA from 40,000-year-old Neanderthal bones to obtain a draft sequence of the Neanderthal genome. The findings suggest that modern humans interbred with Neanderthals shortly after migrating out of Africa, leaving genetic remnants in non-African genomes.
The published Neandertal genome sequence shows significant genetic differences between Neandertals and modern humans, suggesting some interbreeding in the Middle East. Approximately 1-4% of the modern human genome is estimated to be from Neandertals, potentially limiting the extent of interbreeding.
The study found that only 88 Neandertal proteins differ from human proteins, indicating a high degree of similarity between the two species at the proteome level. This discovery suggests that many Neandertal functions may be neutral or have been lost over time.
A study published in Nature Genetics has identified four genes, including MAFB and ABCA4, linked to cleft lip and/or cleft palate. The genome-wide association study involved 1,900 families from diverse ancestry groups, revealing new insights into the causes of this congenital malformation.
A team of researchers discovered a strong sex-chromosome bias in the distribution of transposable elements, which may hold clues to genetic disease mechanisms. The study suggests Alu sequences integrate mostly in the male germline, while L1s integrate in both male and female germlines or early embryogenesis.
Researchers have discovered 2,363 new DNA sequences corresponding to 730 regions on the human genome, representing segments not charted in the reference map. The findings suggest that new genome assemblies based solely on next-generation sequencing might miss many of these sites.
The Rutgers University Cell and DNA Repository is experiencing unprecedented demand for its services, doubling every two to three years, due to the growing need for genetic clues to autism, schizophrenia, and other diseases. The new expansion will turn the repository into a robotics-driven laboratory, allowing for deeper and finer geno...
Researchers have devised a method to identify genetic material responsible for complex traits in millions of yeast cells, shedding light on the missing heritability problem. By studying regions of the genome that cause specific traits in offspring, scientists can detect subtle patterns previously undetectable.
Dr. Alecia Willis, a clinical molecular geneticist, was recognized for her platform presentation on personal medical genomics at the American College of Medical Genetics Annual Clinical Genetics Meeting. The Signature Genomic Laboratories Travel Award supports rising medical genetic researchers in the field.
Researchers used EMR systems to extract phenotypes from DNA samples, replicating previously reported genetic associations for diseases such as atrial fibrillation and type 2 diabetes. The study supports the use of DNA resources coupled to EMR systems for rapid generation of large datasets.
A study has revealed new insights into the 3D organization of the human genome, detailing the spatial location of genes and non-coding sequences within the nucleolus. The research provides a high-resolution sequence map of this nuclear structure, shedding light on how nuclear information is packaged into functional compartments.
Researchers identified differences in transcription factor binding to DNA that affect gene expression in different people. Variability in these regulatory regions can influence disease susceptibility and gene product levels.
The study found that comparing the genomes of an entire family increases accuracy, identifies rare genetic variants, and helps understand disease-linked genes. This approach has the potential to revolutionize genetic research, enabling scientists to diagnose and treat individual family members more effectively.
Maynard V. Olson receives the Promega Biotechnology Research Award for his development of orthogonal-field-alternation gel electrophoresis, yeast artificial chromosome (YAC) system, and sequence-tagged site (STS) mapping techniques. His work significantly contributed to the completion of the human genome map.
Lieberman-Aiden's innovations include the 'Hi-C' method for three-dimensional genome sequencing, enabling new understanding of cell state, genetic regulation and disease. He also developed iShoe technology to diagnose balance disorders in the elderly, showcasing his groundbreaking work across genomics, linguistics and more.
Researchers have identified unique features of the dog genome that enable genetic studies, highlighting breeds as a model for understanding genomic mechanisms. The study shows how genetic mechanisms may control breed-defining traits, such as short legs and skeletal size.
Research reveals that a DNA interval in chromosome 9p21 increases the risk for coronary artery disease by regulating cell division genes, which can lead to vascular cell proliferation and narrowed coronary arteries. The study's findings suggest potential therapies targeting these genes could combat the disease.
A team of scientists has sequenced human genomes from Southern African Bushmen and Bantu individuals to better understand human genetic variation. The study identified 1.3-million genetic variants, showcasing the distinct genetics of Southern Africans compared to other populations.
Francis S. Collins, M.D., has been selected to receive the 2009 AAAS Philip Hauge Abelson Award in recognition of his outstanding contributions to science. He is recognized for his exceptional skills as a scientist, communicator, and leader, as well as his pioneering work on the Human Genome Project.
The new genome sequence will aid in the development of improved varieties of wheat, oats, and barley, as well as switchgrass for biofuel production. The genome information is freely available to researchers worldwide, providing a valuable model for studying grasses.
Researchers at the University of Copenhagen have successfully reconstructed an ancient human genome from a 4,000-year-old hair sample found in Greenland. The team's findings provide valuable insights into the genetic makeup and traits of the Inuk people, who were among the first to settle the New World Arctic.
Researchers created a comprehensive map of DNA methylation in human stem cells, identifying previously unknown patterns and associations between methylation and gene expression. The study provides a significant step towards understanding the regulation of cell differentiation and development.
Researchers challenge conventional interpretations of genome-wide association studies, finding synthetic associations between rare and common gene variants that produce signals similar to those found in actual disease studies. This suggests that researchers may need to broaden their search to pinpoint these powerful mutations.
A new research project will sequence and annotate the sunflower genome to locate genes responsible for agriculturally important traits. The goal is to develop a hybrid variety of sunflower that can thrive in challenging environments, making it suitable for subsistence agriculture in Africa and North America.
Researchers devised method to precisely track evolution's influence on human health by identifying key genetic variations under positive natural selection. The study used a new approach called Composite of Multiple Signals (CMS) to pinpoint specific genes and changes in the genome.
Researchers characterised genomic rearrangements in 24 breast cancers, revealing diverse patterns of disruption and defective DNA repair mechanisms. These findings have significant implications for tumour classification and the development of targeted therapies.
A study of 73 Southeast Asian and East Asian populations reveals a high correlation between genetic ancestry and ethnic groups, contradicting previous theories. Genetic diversity increases from northern to southern latitudes, suggesting a single major migration route from Southeast Asia.
The Eukaryotic Pathogen Genome Database Resource has been expanded with a new contract to support worldwide research into human pathogens. The database provides tools for identifying vaccine antigens and drug targets, facilitating the search for effective diagnostics.
A new study from the Max Planck Institute for Biology of Ageing suggests that a combination of proteins is crucial for healthy aging, not reducing overall calorie intake. Researchers found that manipulating the diet of female fruit flies showed varying results depending on the type and amount of amino acids consumed.