A recent study in Molecular Biology and Evolution reconstructed artificial genomes with the analyses of 565 contemporary South Asian individuals to extract ancient DNA signals. The researchers found valuable genetic components that allow them to elucidate the genetic composition of ancient populations in the region. Additionally, they ...
The American Society of Human Genetics has issued a position statement outlining the responsibility to recontact research participants with new genetic findings. The statement recommends that researchers make reasonable attempts to recontact participants if the reinterpretation is expected to affect medical management, but not strongly...
Researchers say gene interactions are key to understanding disease risk and treatment response, but current methods lack statistical power to uncover multiple genes. Genome-wide association studies have identified thousands of mutations that contribute to disease, but environmental effects and genetic diversity complicate matters.
Researchers identified 1,148 hot spots with unusually high numbers of structural variants in the genome, including sections near genes linked to sense of smell, blood function, and immunity. The study suggests balancing selection drives adaptation and malleability of human DNA.
Researchers from the University of Rochester discover that LINE1 retrotransposons become more active with age, triggering inflammation and age-related diseases. By understanding the impacts of these genomic parasites, scientists can develop strategies to inhibit them and combat aging.
A team of researchers discovered and characterized over 5,000 microbial species in the human microbiome, with 77% being newly identified. The study highlights the personalized nature of the microbiome and its relevance to global health, particularly in non-Westernized populations.
Researchers have identified a major mutation pattern in human cancer that occurs in bursts, with the cause of these mutational bursts remaining mysterious. The study, published in Cell, provides a vast resource for investigating the biological mechanisms behind cancer mutations.
A Baylor College of Medicine study reveals extensive single Watson-Crick base pair mutations contribute to the characteristics of Potocki-Lupski and Smith-Magenis syndromes. The research identifies two groups of patients: those with recurrent and non-recurrent genetic changes.
The project aims to analyze realistic applications of AI in medicine, exploring opportunities and challenges. This includes effective therapies against cancer, cardiovascular diseases, and dementia, as well as preventive interventions in the human germline using genome editing methods like CRISPR-Cas.
The study found that the great white shark's genome contains a plethora of genetic changes indicating molecular adaptation in genes with important roles in maintaining genome stability, DNA repair, and DNA damage tolerance. These adaptations could be behind the evolutionary success of large-bodied and long-lived sharks.
A recent study by CU Anschutz researchers has implicated a complex unexamined gene family in autism severity, suggesting that this underexplored area of the human genome may hold key insights into the disorder and potentially lead to new clinical therapies.
Scientists have sequenced a key part of the human immune system, discovering unexpected overlaps between adults and infants' antibody sequences. This finding could provide potential new targets for vaccines and treatments that work across populations.
The study reveals that the CEACAM3 receptor, found only in humans and our closest relatives, evolves rapidly to counter specialized bacterial pathogens. This molecular arms race shows a fierce competition between the human immune system and bacterial pathogens.
Researchers found that packaging signals on the bird flu RNA genomes are incompatible with H3N2 viruses, limiting reassortment. However, low-level transmission of reassorted viruses was detected, particularly with H5N8 strains.
A study by Universitat Autonoma de Barcelona identifies 873 new regions of the human genome as candidates for natural selection, increasing the total number of detected signals to date. These new regions provide valuable data to help answer questions about human origins and adaptations.
Researchers at the University of Kentucky have assembled the axolotl genome, a salamander that can regrow body parts. The completed genome will help scientists understand how this animal achieves its remarkable regenerative abilities.
Scientists have used deep learning algorithms to identify a new and hitherto-unknown ancestor of humans that would have interbred with modern humans tens of thousands of years ago. The analysis suggests that the extinct species was a hybrid of Neanderthals and Denisovans, providing new insights into human evolution.
Researchers at Cold Spring Harbor Laboratory have developed a method to identify important genes in the human genome using natural selection. By analyzing epigenomic features and evolutionary history, they created fitness consequence maps that can guide future research.
Researchers at the Francis Crick Institute discovered simple rules that determine the precision of CRISPR/Cas9 genome editing in human cells. By analyzing hundreds of edits, they found predictable patterns behind the technology, allowing for greater precision and efficiency.
Researchers have discovered a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease mimicking methylmalonic acidemia. FGF21 levels can predict liver severity and inform treatment decisions. The study may also shed light on common disorders like fatty liver disease and obesity.
Scientists have discovered that DNA damage and repair processes can generate sequence periodicity in the genomes of eukaryotes, favouring a certain composition with a periodic nature. This explanation offers an alternative to natural selection, which has been accepted by the scientific community to date.
The NIH's Clinical Genome Resource (ClinGen) and ClinVar programs are advancing knowledge connecting human genomic variation to human health. Researchers have developed a Gene-Disease Validity Framework to evaluate gene variants in diseases, improving the implementation of genomic medicine and patient care.
A multidisciplinary team applies CRISPR on a human liver-on-a-chip platform to identify biomarkers for toxicity and off-target effects. The study aims to predict liver tissue response in humans and develop effective gene editing tools.
The NIH has awarded a $3.6 million grant to study the safety of CRISPR-like therapies in human tissues. A team led by Todd McDevitt will assess the safety and toxicity issues of genome editing, developing platforms to detect adverse effects on physiological function.
Researchers analyzed two shark species' genomes and compared them to those of vertebrate species to understand their evolution. They found that sharks have massive insertions of repetitive elements in their genomes, which may contribute to their slow evolution.
The Global Alliance for Genomics and Health (GA4GH) has released three new interoperability standards: Beacon API, refget API, and Workflow Execution Service (WES) API. These standards address variant discovery, patient case discovery, reference sequence harmonization, and cloud computing to enable responsible genomic data sharing.
The Wellcome Sanger Institute has completed sequencing the genomes of 25 UK species, enabling research into their biodiversity and potential for conservation. The newly-sequestered genomes will shed light on various biological phenomena, such as brown trout migration patterns and robin magneto receptors.
A study published in PNAS reveals that an ancient retrovirus, HK2, is more frequently found in drug addicts and associated with addiction. The virus integrates near a gene involved in dopaminergic activity, manipulating nearby genes and predisposing individuals to addictive behavior.
Researchers have discovered a genetic risk factor for Alzheimer's disease and related dementias, which may lead to new treatments. Humanin, a naturally occurring mitochondrial peptide, decreases with age and is associated with an increased risk of diseases linked to older age.
Researchers characterized the maternal microbiome during pregnancy, revealing variations in bacterial diversity across different body sites and gestational stages. The study highlights the importance of the maternal microbiome in supporting healthy pregnancy outcomes and may inform targeted interventions to promote fetal development.
A Northwestern University study found that historical bias leads researchers to focus on the same 10% of human genes, despite many having strong links to disease. The study suggests that policy interventions promote exploratory research but mainly reinforce established topics.
A recent study published in Nature Ecology & Evolution found that superbugs like MRSA have a complex evolutionary history, with cows being the source of strains causing human infections worldwide. The research highlights the importance of monitoring antibiotic resistance and developing strategies to minimize its spread.
A new international collaboration led by the CNIO reveals that up to 20% of human genes may not be coding genes, but rather non-coding or pseudogenes, which could have significant effects on biomedicine. The study analyzed gene catalogs and found that many genes were more likely to be non-coding than previously thought.
A new technique called TSA-Seq measures distance of every gene from specific nuclear landmarks, building a 3D picture of the genome’s organization. Genes closer to nuclear speckles tend to be more active than those near the nuclear lamina.
Scientists investigate the recent yellow fever outbreak in Brazil, finding that it originated from nonhuman primates in the forest and spread to humans. The study highlights the importance of real-time disease monitoring and public health countermeasures.
Researchers used genomic and epidemiological approaches to understand the mode of transmission of the South America's largest yellow fever virus outbreak. The study revealed that the virus lineage had spread through a sylvatic cycle of transmission in primates before spilling over into human populations.
A new study by the University of Bristol has created a timescale for the origin and evolution of all life on Earth, revealing that life emerged around 4.5 billion years ago from a single ancestor called LUCA. The study uses genomic and fossil data to provide a more accurate timeline than previously thought.
A study comparing ape and human P. vivax genomes reveals nearly identical DNA sequences, but with key differences in genetic diversity and binding proteins. The findings suggest an evolutionary bottleneck where the parasite passed from apes to humans in Africa, then spread globally.
Researchers report cross-disciplinary work as key factor in HGP's success, leading to more successful careers and impactful publications. The consortium model, which incorporated collaboration between biologists, computer scientists, and other disciplines, changed science's cultural norms.
A team of researchers has successfully sequenced the genomes of 25 ancient individuals from Southeast Asia, revealing six distinct population groups. The findings suggest that prehistoric populations in the region had higher genetic affinities with present-day Japanese and were influenced by language-speaking groups such as Austronesians.
Researchers analyzing a koala virus hope it can explain why humans have accumulated millions of years of 'junk' DNA. The retrovirus has infected germline cells in humans for over five million years, altering the host genetic code and that of its descendants.
Researchers developed a novel approach to predict genes susceptible to Alu/Alu-mediated rearrangements, which can cause disease. The model analyzed sequence features of Alu pairs and identified hotspots of genomic instability associated with these elements.
Genomic analysis reveals no evidence of archaic human DNA in Flores pygmy genomes, contradicting expectations of gene flow from Homo floresiensis. Instead, the population's short stature is attributed to natural selection on pre-existing genetic variation.
Researchers analyzed genetic data from diverse humans and Neanderthals, finding no evidence for recent, human-specific selection of FOXP2. The study revises the history of how humans acquired language, highlighting the importance of using diverse datasets in population genetics.
Experts from the University of Stirling have made a breakthrough in understanding how people respond to lifestyle treatment for preventing Type 2 diabetes. A new genomic signature has been discovered that indicates improved insulin sensitivity in individuals whose Type 2 diabetes status improves following a treatment intervention.
Eric S. Lander, a pioneer in the study of the human genome and Human Genome Project, has been honored with the William Allan Award for his substantial and far-reaching scientific contributions to human genetics. The award recognizes his work on genetic mapping, genome-wide association studies, and cancer genomics.
Researchers developed an algorithm that combines genomic information to predict individual responses to anticancer drugs. The new tool, pGENMi, uses gene expression, DNA sequence and epigenetic factors to identify key characteristics associated with specific drug responses.
Researchers isolated ancient viral sequences from human remains and found a common pathogen associated with humans for over 6,900 years. The study reveals the pathogen evolved significantly slower than previously thought, showcasing the utility of ancient viral sequences in studying virus evolution.
The GA4GH Large Scale Genomics Work Stream introduces the htsget protocol, a standard for accessing large-scale genomic sequencing data online without file transfers. This enables global sharing and collaboration, addressing the growing need for big-data cloud-based approaches in genomics.
Researchers developed a new model for comparative genomic analysis, revealing differences in gene regulation between primate species. The Phylogenetic Hidden Markov Gaussian Processes model provides insights into what makes a human a human and has implications for understanding evolution and certain diseases.
Scientists create three-dimensional maps of DNA in cells to understand genome organization and gene expression. The study reveals that genes cluster together around specific nuclear bodies, influencing gene activity.
New, high-quality ape genome assemblies have been generated without the guidance of the human reference genome, providing a clearer view of genetic differences that arose as humans diverged from other primates. The research team also studied brain organoids to understand how differences in gene expression during brain development might...
Researchers discovered three human-specific genes influencing brain size, involved in genetic defects associated with neurological disorders. The genes, part of the Notch family, regulate neural stem cell development and delayed maturation, leading to larger brain sizes in humans.
A set of three new genes involved in nerve cell generation may have contributed to the rapid evolution of the large human brain. These genes, which emerged around 3.5 million years ago, offer clues about what separates humans from chimpanzees.
Researchers found that human-specific NOTCH2NL genes regulate cortical neurogenesis and contribute to the growth of the cerebral cortex. This discovery sheds new light on human cognitive evolution and may lead to breakthroughs in treating brain developmental disorders.
LINE-1 retrotransposons play a pivotal role in genome evolution and are involved in processes such as aging, brain activity, cancer immunology and cancer development. The study highlights the importance of cell cycle regulation and the DNA replication complex in LINE-1 cellular localization and activity.
A study published in Cell Reports has mapped the genetic regulators of facial development, revealing thousands of previously unknown enhancers linked to craniofacial abnormalities. The researchers found that these enhancers contribute to many cases of cleft palate and provide new insights into the causes of this birth defect.
Researchers generated an atlas of the human genome using human embryonic stem cells, identifying essential genes for growth and survival. The study also analyzed the role of cancer-causing genes in early development and growth.
The European Genome-Phenome Archive (EGA) stores nearly 4,000 genomic datasets, facilitating research into cancer, cardiovascular and rare diseases. The EGA enables cooperation among scientists, accelerating medical genomics in Spain.
A Stanford-UCSF study has analyzed the mysterious Ata skeleton, a human fetus with severe genetic mutations, revealing multiple genes contributing to bone deformities and dwarfism. The comprehensive genomic analysis adds new mutational variants to the repository of known disease-causing genes.