Articles tagged with Human Genomes
Scientists have used nanopore long-read sequencing to generate the first complete and accurate linear map of a human Y chromosome centromere. This milestone marks the beginning of a new era in human genetics and genomics, where gaps in the genome reference will no longer be tolerated.
Researchers discovered two distinct episodes of Denisovan genetic intermixing between modern humans and Denisovans. The genomes of modern Papuan individuals contain approximately 5% Denisovan ancestry, while East Asians have a second set of Denisovan ancestry not found in South Asians and Papuans.
Researchers discovered new functional regions in the human genome that are shared with most other mammals, providing clues to disease prevention and mutation resistance. The study used seven unusual species, including elephants and bats, to reveal new candidate elements for shaping clinically-relevant traits.
A team of scientists at University of Utah Health uses animal genomes to identify regions that may control different diseases. They found elements linked to DNA repair, wing development and eye development in elephant, bat, dolphin and orca genomes, which could help in the study of cancer resistance and other health conditions.
Researchers at Kyoto University developed a gene editing method called MhAX, which creates genetically matched stem cell 'twins' for studying disease-related mutations. The technique guides the cell's own repair mechanisms and allows for precise removal of reporter genes, leaving only the modified SNP behind.
Researchers use an easy-to-use, open-source Galaxy workflow to analyze gene families across species. The GeneSeqToFamily workflow removes complex prerequisites and is customizable, making it accessible to biologists unfamiliar with Compara.
Researchers used CRISPR to identify genes that help neurons defend against toxic protein aggregates, which are thought to drive ALS progression. A handful of genes, including Tmx2, show promise as potential drug targets.
Researchers will focus on controlling phenolics, compounds that protect plants from pathogens and adapt to environmental changes. The project aims to decipher the genetic secrets of corn's complex genome, expected to consist of 50,000 genes.
Scientists discovered that in vitro-transcribed gRNAs containing a 5' triphosphate moiety activate the immune response in human cells, leading to cell death. However, pretreatment with phosphatase can remove the 5'ppp group and significantly reduce T cell host immune response and cytotoxicity.
A recent study of ancient DNA has found that the Bell Beaker culture in Europe comprised two genetically distinct populations, challenging previous assumptions about their spread. The research also revealed a significant genetic shift, introducing variants for paler skin and lighter-colored eyes, as well as genes for digesting lactose.
A new technique has been developed to analyze additional chromosomes, which are found in some species and can be associated with developmental abnormalities. The study identified specific regions of the genome present on these additional chromosomes, including genes related to cell cycle control and cytoskeleton structure.
Researchers have identified genetic evidence of Taíno ancestry in contemporary Puerto Ricans and other Caribbean communities, providing unprecedented insights into the genetic makeup of the region. The study's findings support claims by indigenous descendant communities that their ancestors survived European colonization.
A team of scientists developed an algorithm that accurately pinpoints mutations favored by natural selection, shedding light on the specific mutations responding to selection pressure. The iSAFE algorithm reliably identifies favored mutations in large genomic regions without needing function information or demographic data.
Researchers investigated ultraconserved elements and found that deleting individual enhancers does not cause major defects, but some subtle brain abnormalities persist. A second study on limb enhancers showed functional redundancy, highlighting the importance of these regulatory elements.
A genome-wide analysis reveals that variations in gene enhancers and promoters contribute to species differences, with larger enhancer ensembles linked to stable expression levels. The study provides insights into evolutionary conservation and the impact of genetic regulation on behavior and morphology.
Researchers at the University of Montreal have identified a key molecule, Pax7, which acts like a pioneer factor to open specific parts of the genome. This discovery provides insight into mechanisms of genome access and has significant implications for our understanding of cell diversification and disease prevention.
Researchers discovered a complex system regulating the same genes in humans and mice, yet evolved independently. Noncoding RNAs with origins in DNA segments inserted by retrotransposons played a key role in this convergent evolution.
Researchers have detected mobile genetic elements that can switch off gene expression, altering protein production in eukaryotic organisms. These elements are prevalent in genomes of plants and fungi, but their impact is often negative, leading to degeneration and reduced productivity.
A human common cold virus known as rhinovirus C was found to be killing healthy chimps in Uganda's Kibale National Park, with five chimps dying from the outbreak. The virus is notably more severe than its relatives and affects young children most severely.
Researchers sequenced the genomes of 24 South African individuals from different ethnolinguistic origins, revealing high levels of genetic diversity. The study found measurable genetic differences between Nguni and Sotho-Tswana speakers, as well as varying proportions of admixture in Coloured individuals.
New research from the University of Bristol demonstrates that cells use F-actin to reshape their nucleus and reorganise their genome after cell division. This process is essential for life, but was poorly understood until now.
New findings help clarify genetic influence on brain disorders by analyzing 3 million genomic locations, revealing links to schizophrenia and other disorders. The study identifies specific variable locations in the genome that affect gene expression and DNA methylation.
Researchers used two gene technologies to assemble the most complete genome sequence of Triticum aestivum, the most common cultivated species of wheat. The achievement may help biologists better understand the evolutionary history of wheat and advance the quest for hardier, pest- and drought-resistant varieties.
Researchers develop RNA Capture Long Seq (CLS) method to map non-coding DNA regions, improving gene catalogues for long non-coding RNAs. The new method enhances genomic databases like GENCODE, enabling better understanding of genomic function and its impact on health and disease.
The NIH has awarded Jackson Laboratory for its innovative software to improve data sharing in heart disease research. Researchers will now have access to genomic data shared by humans and animal models, enabling them to fast-track their studies.
A Tel Aviv University study identifies the first group of long non-coding RNAs in the auditory system, which may help devise strategies for curing deafness. The researchers found that these RNA molecules play a crucial role in regulating genes involved in deafness.
A recent study published in Science Advances suggests that corals can adapt to warmer oceans if global emissions are controlled. The research found genetic variants in some corals that make them more heat tolerant, but may not be enough to keep up with the rapid warming predicted by climate models.
Researchers developed a CRISPR-based system, called REPAIR, which can edit single RNA letters in human cells. This new system has potential to treat diseases without permanently affecting the genome.
Researchers have developed a new enzyme called a base editor that can directly change DNA base pairs, enabling precise genome editing. This technology may one day enable the treatment of genetic diseases by erasing harmful mutations and writing in helpful ones.
Researchers have created a new genome editing tool that can directly repair common DNA point mutations. The 'base editor' works by converting adenine to guanine without cutting the double helix, with high efficiency and minimal byproducts.
Researchers used multi-omics profiling to study prediabetic individuals, finding that each person has a unique molecular profile. The study aimed to develop personalized approaches to prevent diseases like diabetes by analyzing environmental stressors and lifestyle factors.
Researchers identified new genomic regions associated with skin color variation in African populations, providing insights into DNA damage caused by UV radiation. The study found links between genes involved in repairing DNA damage and skin pigmentation, potentially shedding light on skin disease and cancer risk.
The National Institutes of Health has completed a detailed atlas documenting the stretches of human DNA that influence gene expression across various tissues and cell types. This resource will aid researchers in understanding how individual genomic variation leads to biological differences, such as healthy and diseased states.
Ancient African genomes show human populations diverged around 350,000-260,000 years ago. The study analyzed 7 ancient genomes, including a Stone Age hunter-gatherer and Iron Age farmers, finding correlations with fossil records.
The Leopoldina Annual Assembly explores the ethical, legal, and technological aspects of genome editing. Researchers will discuss its applications in humans, plants, and animals, as well as its potential impact on food production and human therapies.
A team of researchers has created a model to analyze short tandem repeats in the human genome, which are implicated in about 30 harmful conditions. The model predicts the frequency and mutation rate of repeats, providing insights into constraints that may narrow down disease signals.
A genome-wide association study identified the CD53 gene as a susceptible locus for tuberculosis. Increased CD53 expression was observed in active TB patients, supporting its biological role in disease susceptibility. This research lays the foundation for identifying individuals at high risk of developing tuberculosis.
Researchers analyzed the genomes of 210,000 people to find a drop in some genetic mutations linked to Alzheimer's disease and heavy smoking in those who lived longer. Additionally, sets of mutations predisposing people to heart disease and obesity appeared less often in longer-lived individuals.
A study led by the University of Leicester discovered that a small number of human ancestors thousands of years ago transmitted ancient strains of the virus to individuals today. Most integrated HHV-6 genomes are intact and may be able to reactivate as viruses.
The FANTOM5 project has created an extensive atlas of microRNA expression in human primary cells, providing insights into the intricate regulatory network governing cellular function and behavior. The atlas reveals thousands of new genomic loci producing short RNAs, which may constitute a novel class of regulatory short RNAs.
Using a cryptographic approach, Stanford researchers can identify disease-associated genes without revealing individual genetic information. The 'genome cloaking' technique enables researchers to analyze genomic data in aggregate and report on findings relevant to the study, protecting participants' privacy.
A new study published in Nature Communications reveals genetic variants that affect the immune response to infections, linking genetics and environment to disease risk. The research identified hundreds of genes where gene expression changes depend on individual genetic variants, shedding light on the genomic elements underlying immune ...
A study by University of Wisconsin-Madison researchers found a public divided on the use of human genome editing, with some supporting its therapeutic applications and others opposing enhancement. However, most respondents agreed that conversations about the technology are necessary to address its moral and regulatory implications.
Researchers have successfully edited the pig genome to deactivate a family of retroviruses, which can be passed on to human cells. The achievement holds important implications for transplant medicine and may one day enable pig-to-human organ transplants.
Researchers have developed a new technique called Orion to flag regions of the non-coding genome that are likely to contain disease-causing genetic changes. This method identifies stretches of DNA that vary little from person to person, which are most likely doing something important and more likely to cause disease.
A group of 11 organizations has issued a statement on germline genome editing in humans, recommending against human pregnancy-related editing and supporting publicly funded in vitro research. The statement outlines scientific and societal steps necessary before implementation of such clinical applications is considered.
Researchers at Salk Institute have visualized chromatin structure in living human cells using a novel DNA dye and advanced microscopy. They found that chromatin forms a semi-flexible chain with varying packing density, suggesting that gene activity is determined by compaction rather than higher-order structures.
A study of 116,279 individuals found 16 genetic markers associated with human lifespan, including 14 new to science. Lower brain expression of certain genes is also linked to increased longevity.
The UK Biobank is distributing its 500,000-person dataset via the European Genome-phenome Archive (EGA), a resource developed by EMBL-EBI and CRG in Barcelona. This move aims to enable researchers to study human disease causes with maximum efficiency.
A new era in human genomic variation interpretation is underway, driven by the need for standardized and accurate clinical care. Data sharing has become increasingly important, with payers requiring labs that share data to be reimbursed.
A recent study published in Genome Biology and Evolution proposes that only 10-15% or up to 25% of the human genome is functional, with the remaining portion consisting of non-functional 'junk DNA'. This finding contradicts previous estimates suggesting 80% of the genome has a biochemical function.
A team of scientists is working on synthesizing a human genome from scratch, tackling the technical and ethical challenges that come with it. They have already made significant progress in building smaller genomes, such as those of microbes, but still face significant hurdles in constructing the complex human genome.
Nicholas Katsanis, Director of the Center for Human Disease Modeling at Duke University, receives the 2017 Curt Stern Award for his groundbreaking research on ciliary disorders. The award recognizes his work on signaling roles of cilia and mechanisms behind rare genetic disorders.
A recent study has found that the HERV-K Gag capsid interferes with HIV-1 assembly, resulting in reduced particle release and infectivity. The researchers observed a correlation between coassembly of HERV-K Gag and decreased HIV-1 particle formation.
A study has characterized the mouse genome, revealing new insights into rare diseases and accelerating the development of new treatments. The research identified 360 new disease models and 28,406 new descriptions of genes' effects on mouse biology and disease.
A study by the Stowers Institute for Medical Research found that cancer cells often lose copies of repetitive sequences known as ribosomal DNA, which may enable faster proliferation but also render them more sensitive to DNA damage. This could potentially be exploited by DNA-damaging chemotherapeutics.
Researchers computationally recreated ancient chromosomes of the first eutherian mammal, revealing chromosomal changes that occurred over 105 million years. The study provides a detailed picture of evolutionary breakpoints and their role in forming new species and contributing to human diseases like cancer.
Researchers identified natural genomic variation in Cryptococcus neoformans, influencing prevalence and disease severity. The study found specific variants associated with clinical isolates linked to known virulence factors.
Dr. Tuuli Lappalainen is awarded a 5-year, $1.7 million NIH grant to investigate why identical genetic mutations cause disease in some individuals but not others. The study aims to understand the role of haplotype epistasis in human evolution and disease.
A research team has assembled the first complete genome of a deep-sea mussel, providing new insights into its molecular mechanisms of adaptation. The study found that modern deep-sea mussels evolved from shallow-water mussels approximately 110 million years ago.