Articles tagged with Human Genomes
ClinGen aims to standardize genetic variant interpretation, resolving differences between labs and clinicians. The program uses ClinVar, a database of over 170,000 variant submissions, and has formed expert working groups to interpret gene-disease relationships and improve clinical decision-making.
Researchers analyzed gene activity in over 1,600 tissue samples to understand how genomic variants control gene expression and predispose people to diseases like cancer, heart disease, and diabetes. They identified common eQTLs across tissues and found a large number of tissue-specific eQTL genes.
A new technique called Promoter Capture Hi-C was used to connect regulatory elements in the mouse and human genomes, providing insight into how genes are regulated. The analysis identified long-range interactions between promoters and enhancers, shedding light on the genetic basis of disease.
A team of scientists, led by Harvard University's David Liu, has developed an engineered form of the genome-editing protein Cas9 that can be turned on with a small drug-like molecule. This approach achieves up to 25-fold higher specificity in genome editing than the standard form of Cas9.
Research suggests that probiotic Lactobacillus rhamnosus GG modifies the activity of other gut bacteria, fostering a healthy immune system and promoting several species of beneficial microbes. The discovery could lead to more effective strategies for maintaining a balanced gut ecosystem.
UMass Medical School scientists are developing a novel technology using CRISPR gene editing to excise latent HIV virus from infected cells. The goal is to create a functional cure by precisely cutting the DNA of the latent virus out of an infected cell.
Researchers at the Max Delbrück Center for Molecular Medicine have discovered a method to increase the efficiency of precise genetic modifications using the CRISPR-Cas9 technique. By inhibiting a key enzyme, they achieved an eightfold increase in precision, paving the way for more accurate gene editing applications.
Chromothripsis, a hidden genetic disorder, can cause severe birth defects in children despite its absence in healthy parents. The condition affects multiple genes and leads to difficulties getting pregnant, miscarriages, and intellectual disability.
A new gene sequencing technology, CaptureSeq, enables accurate measurement of specific genes' activity at minute levels, improving blood cancer diagnosis. The technology has practical applications in diagnosing diseases guided by gene expression.
A study analyzing 17 million mutations in 650 cancer patients found that genetic mistakes are better repaired in some parts of the human genome, with genes switched on having lower mutation rates. The 'mismatch repair' mechanism varies in efficiency depending on chromosome regions.
Researchers found a key difference in human and chimpanzee DNA that boosts brain size in mouse embryos. This discovery sheds light on the genetic basis of human brain evolution and may help explain why humans have unique capabilities compared to chimps.
The Medical College of Wisconsin has received a $8 million grant to fund the Rat Genome Database, providing a globally-accessible collection of data from ongoing rat genetic and genomic research. The database holds nearly 4.5 million functional data annotations for rat, human, and mouse genes, as well as files on specific animal strains.
Researchers have generated and analyzed reference epigenome maps for 111 human cell types, revealing the complex interplay between genetic and environmental factors in shaping our genome. This breakthrough has significant implications for understanding and treating diseases such as cancer and Alzheimer's.
Two landmark studies reveal the interplay between chromosomal structure and gene expression across tissues. Researchers found that variations in gene expression are linked to differences in enhancer sequences and transcriptional regulation.
Researchers have mapped the epigenomes of over 100 human cells and tissues, offering new insights into how genes are turned on and off in different cellular contexts. The comprehensive data set provides a powerful tool for studying human biology and understanding the links between the genome and disease.
The Roadmap Epigenomics Project has released new annotations of the human genome, which may hold the key to understanding and combating diseases. By mapping epigenetic signatures associated with complex traits, researchers aim to better understand how genes change and develop effective treatments for Alzheimer's disease.
The comprehensive maps and analyses of the epigenomes of human cells and tissues will provide new insights into normal development and disruption in disorders such as cancer, autism, and heart disease. The data will also be valuable in studying autoimmune diseases, Alzheimer's disease, and other conditions.
Researchers identified super-enhancers in T cells as key to regulating the immune system, which may lead to new treatments for autoimmune disorders such as rheumatoid arthritis. The study found that these enhancers control genes involved in T cell function and activity.
Researchers found no significant relationship between BMI and gut microbiome types, instead highlighting genetic variation in bacterial strains. Dr. Pollard's team developed a computational shortcut to improve accuracy of microbiome studies.
IBS researchers develop Digenome-seq to confirm CRISPR-Cas9's accuracy in human cells. The technique identifies on-target and off-target sequences, eliminating concerns about cancer-causing mutations.
Research found that humans have fewer endogenous retroviruses than other animals, likely due to reduced blood contact. This decrease could be attributed to human evolution using tools instead of biting during conflicts.
A new study found that humans carry fewer endogenous retroviruses in their genomes compared to other mammals. This decrease may be attributed to a less bloody evolutionary history, with reduced exposure to blood-borne viruses as humans transitioned from biting during conflicts and hunting.
A new computational method can identify positions in the human genome that play a role in cell function, revealing insights into genetic regulation and potential applications in personalized medicine. The study found that 4.2 to 7.5 percent of nucleotides in the human genome have influenced fitness since humans diverged from chimpanzees.
Researchers at Cold Spring Harbor Laboratory created a new computational method, fitCons, which compares changes in DNA letters across species and within individuals to identify functionally important sequences. The analysis suggests that only about 7% of the human genome is functional.
Researchers at UC Santa Cruz aim to build a new map of human genetic variation with a $1 million grant from the Simons Foundation. The Human Genome Variation Map will provide a critical resource for both medical and basic research in the life sciences, overcoming limitations of current models.
Using state-of-the-art sequencing technology, researchers identified thousands of differences in gene expression across six life stages and found that genes containing these regions were crucial to the maturation process of neurons during fetal development. The study's findings suggest a 'signature' found in cells from the earliest sta...
Cell biologists at the University of Toronto have identified a region of the genome that regulates the activity of the critical stem cell gene Sox2, potentially advancing regenerative medicine. The discovery reveals how embryonic stem cells are maintained in their pluripotent state.
Researchers created a detailed map of human genome's looping structure, revealing that DNA loops play an essential role in nearly every cell process. The study also identified thousands of hidden genetic switches and rules governing loop formation.
Scientists at Max Planck Institute find millions of gene forms, 85% genes without predominant form, and 4,000 disease genes. The dual nature of human genomes reveals individual diversity in interactions between genes.
A team of researchers sequenced the genomes of 16 Anopheles species to understand their genetic differences and how they adapt to new environments. The study offers new insights into the evolutionary history of these mosquitoes and their ability to transmit malaria parasites.
Researchers have sequenced the genomes of 16 Anopheles mosquito species, revealing genetic differences between deadly parasite-transmitting species and their harmless cousins. The study offers new insights into how these species adapt to new environments and interact with humans, potentially advancing malaria control efforts.
Researchers at Tufts University found that active transcription promotes DNA repeat expansions, leading to human diseases like Freidreich's ataxia and Huntington's disease. The study used baker's yeast to monitor the effects of transcription on repeat expansions.
Researchers mapped p53 binding sites in human cancer and normal cells, finding the protein binds selectively to repeat sequences in cancer cells. This suggests p53's role in maintaining genomic stability and tumor suppression is context-dependent.
Researchers have discovered that a significant number of mouse genes do not behave like their human counterparts, suggesting that science will need to rethink the role of the lab mouse. The findings come from the ongoing mouse ENCODE project and indicate that similar genes in humans and mice are expressed in different ways.
A comprehensive study of the mouse genome has discovered striking similarities and differences with the human genome, shedding light on gene regulation and its impact on human biology. The findings may lead to better use of mouse models in medical research.
An international team of researchers identified approximately 6600 genes whose expression levels vary within a restricted range in both mice and humans. These genes, which represent about one-third of active genes across tissues in both species, reflect evolution's constraint on their expression to maintain cellular housekeeping.
A team of researchers has mapped the 'mission control centers' of the mouse genome, which are responsible for regulating gene activity. This discovery sheds light on why studies in mice cannot always be replicated in humans and highlights the importance of regulatory regions in common chronic human diseases.
The study, Mouse ENCODE, compared mouse and human genome regulatory elements to understand similarities and differences in gene control. Researchers found that the general principles of gene regulation are similar but with distinct details between species.
Researchers have found that mice and humans share similar genetic and biochemical programs for regulating gene activity, but also exhibit striking differences. The study provides insights into gene regulation and the use of mouse models to study human biology and disease.
A team of international researchers has detailed the functional parts of the mouse genome and compared them with those in humans, finding that certain processes are preserved through time. The study reveals new insights into mammalian biology and human illness mechanisms.
Researchers analyzed the cat genome to understand domestication, finding changes in genes related to memory, fear, and reward-seeking. They also discovered genetic signatures associated with desirable traits such as docility and unique hair patterns.
A new genome sequencing technology has identified over 26,000 previously unknown genetic variants in the human genome. These discoveries have significant implications for understanding the causes of genetic conditions and may lead to breakthroughs in personalized medicine.
Scientists discovered 39 different koala retroviruses passed down from parent to offspring, offering insights into the human viral lineage and koala conservation. The study found that these retroviruses integrated into the host genome less than 50,000 years ago and are linked to health issues in koalas.
Researchers at Harvard University have developed a method to efficiently deliver genome-editing proteins into cells, bypassing the need for DNA delivery. The new system uses commercially-available cationic lipids to introduce proteins into cells, offering hope for treating genetic diseases, including deafness.
A recent study found that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, likely playing an important role in disease. This variation is characterized by segments of DNA being deleted or duplicated, a common cause of autism and other conditions.
Researchers have discovered that HIV can infect the entire female reproductive tract, including the vagina and ovaries, in a macaque model. The study used an artificial virus to track the spread of infection through the FRT, revealing that infected cells were detected throughout the tract within 48 hours after vaginal introduction.
A team of researchers found nearly double the number of genomic loci that might be coding for transfer RNAs (tRNAs) in humans, with most resembling mitochondrial tRNAs. The discovery suggests unexpected new links between the human nuclear and mitochondrial genomes.
Scientists have compiled a treasure trove of 146 ancient and modern human full mitochondrial genomes to improve the accuracy of molecular clocks in human evolution. The new data reveals that a molecular clock calibrated with ancient sequences is far more accurate than traditional ones based on archaeological evidence.
A 2,330-year-old skeleton from southern Africa provides clues to early modern human prehistory and evolution. The study sequenced the man's mitochondrial DNA, revealing a unique genetic profile that sheds light on human origins.
A new study by University of California, Berkeley scientists found that human facial traits are more variable than other bodily traits and show higher levels of genetic variation. This is consistent with the idea that evolution has favored uniqueness in facial features to enhance recognition and social interaction.
The gibbon genome sequencing project provides new insights into chromosomal rearrangements, evolutionary history, and genetic factors in human health. The study sheds light on the complex evolution of gibbons and their role in understanding human diseases.
Researchers have identified a genetic region controlling red blood cell invasion in the chimpanzee malaria parasite, which differs from the human malaria parasite. This finding provides potential pathways for developing vaccines against human malaria.
The American Society of Human Genetics and National Human Genome Research Institute have awarded a genetics and public policy fellowship to Katherine D. Blizinsky, PhD. The 16-month appointment aims to develop and implement genetics-related health and research policy at a national level.
Comprehensive maps of epigenetic marks reveal patterns for safe restoration and provide a framework for testing disease models and drug candidates. These findings hold promise for diagnosing and treating diseases caused by gene expression deregulation, including cancer and autoimmune disorders.
Three analyses compare how human, worm, and fruit fly genomes are read out and organized into chromosomes, adding billions of entries to a publicly available archive. Scientists discovered common features that apply to all organisms, offering insights into human development and disease.
Researchers found powerful commonalities in biological activity and regulation among species, reflecting their shared ancestry. The studies revealed similarities in gene expression patterns, DNA packaging, and chromatin organization across human, fly, and worm genomes.
A team of scientists at Cold Spring Harbor Laboratory developed a new algorithm to analyze genome sequences and pinpoint insertion and deletion mutations involved in diseases. They successfully identified indels associated with autism and obsessive-compulsive disorder, shedding light on the genetic causes of these disorders.
Black truffles use complex genetic makeup and DNA methylation to regulate jumping genes, adapting to changes in their surroundings. This unique process sheds light on how fungi adapt to environmental changes without an active spore dispersal system.
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.