Researchers from the University of Virginia Health System have made significant discoveries about the genetic influences on fatty acid metabolism in diverse populations. The study found broad similarities among groups but also notable differences, highlighting the need for genetic studies in diverse groups.
Researchers have developed STARVar, an artificial intelligence-powered method that leverages diverse data sources to identify genetic variants associated with diseases. The tool prioritizes genomic variants based on real-world patient symptoms, providing a more nuanced understanding of clinical presentations.
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Researchers identified a circulating tumor DNA (ctDNA) biomarker that can predict disease recurrence and response to treatment in patients with BRAF-negative melanoma. The study found that measuring ctDNA levels and variants can help tailor therapy and improve patient outcomes.
Researchers identified PUCH, a novel enzyme that produces small molecules called piRNAs to detect and prevent parasitic DNA from replicating in our genomes. This discovery sheds light on how our immune system works and may have implications for understanding innate immunity.
Researchers at KAUST discovered that certain combinations of stressors increase gene-transfer rates, while others reduce it. They found synergistic effects from combining stressors like UV light and disinfection chemical byproducts, as well as antagonistic effects from chloroform.
Scientists have identified a specific process that helps control transposable elements, which destabilize the genetic code and contribute to aging. Strengthening this pathway in Caenorhabditis elegans extended its lifespan.
A new CRISPR-based diagnostic tool, MPXV-CRISPR, has been developed in Australia to detect the monkeypox virus with high precision and speed. The tool can detect the virus in clinical samples in just 45 minutes, making it faster than current methods.
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Researchers at Osaka University have developed a new gene editing technique called NICER, which significantly reduces off-target mutations compared to traditional CRISPR/Cas9 methods. This novel approach uses multiple small cuts in DNA strands and promotes interhomolog homologous recombination to correct heterozygous mutations.
A recent study from MIT found that measuring diversity of mutations within a tumor generates more accurate predictions of treatment success than overall mutation count. This discovery could help doctors identify patients who would benefit most from checkpoint blockade inhibitors.
New research from Cold Spring Harbor Laboratory suggests that high tumor mutation burden does not guarantee an effective immune response in patients with mismatch repair deficiency. The study found that tumors with identical mutations across all cells responded to immunotherapy, while those with subclonal mutations did not.
A new study has shed light on the origins of St Helena's 'liberated' Africans, who were brought to the island between 1840 and 1867. The research reveals that they most likely originated from areas between northern Angola and Gabon in West Central Africa.
A new study published in Genome Biology analyzed the genomes of 2000 dogs from 321 breeds, revealing 25 major groups that match expected breed origins. The research found significant genetic variation among breeds, with wolves exhibiting 14% more variation than dogs.
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Researchers at Van Andel Institute have identified a key part of a mechanism that annotates genetic information before it is passed from fathers to their offspring. The findings shed new light on genomic imprinting, a fundamental biological process linked to diseases such as Silver-Russell syndrome and certain cancers.
Researchers at Pitt Public Health analyzed thousands of human genomes to find new gene variations influencing Alzheimer's disease risk. They identified 15 additional variations in the APOE gene and other genome areas that may influence disease risk, although more research is needed for definitive conclusions.
The study presents a pioneering detection tool that combines molecular biology and electronics to identify various pathogenic agents. The technology has demonstrated remarkable sensitivity detecting as few as 10 target molecules and rapid results under one hour.
Researchers have discovered how plants pass along chemical markers that instruct cells on using DNA codes, a process known as epigenetic inheritance. The study reveals the role of protein DDM1 in making way for enzymes that add regulatory marks to new DNA strands, preserving genetic controls across generations.
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CyDENT base editors allow efficient and precise modification of genetic information in living organisms. The system enables strand-specific base editing in nuclear and organellar genomes, with high strand specificity demonstrated in mitochondrial genome editing.
A new gene-editing technique combines peptide nucleic acids and prokaryotic Argonautes to introduce targeted breaks in the genome. The approach, called PNP editing, offers advantages over CRISPR-based methods, including improved specificity and targeting.
Researchers found that specific regions of the genome with unique features act as hotspots for mutation accumulation in human cancer. Certain mutational signatures linked to alcohol consumption accumulate in early-replicated genome segments, defying conventional understanding.
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Researchers have identified genetic variants and structural patterns that contribute to the development of Bartter syndrome type 3, a rare kidney disease. The study's findings may lead to better diagnostic and treatment options for affected individuals.
Researchers have discovered a new scar type, reciprocal pairs, in HR-deficient cancers that create specific chromosomal changes. These findings may lead to new approaches in treating these types of cancers by blocking backup repair mechanisms.
Researchers used AI to predict Z-DNA fragment locations that overlap with known mutations causing severe hereditary diseases. These fragments can influence traits and body processes, including hair color, height, weight, and cholesterol levels.
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Researchers have engineered bacteria that can detect tumor DNA in a live organism, using CRISPR technology. The bacteria, Acinetobacter baylyi, were designed to respond to specific DNA sequences associated with cancer, allowing for early detection and potentially preventing disease progression.
Research reveals that DNA shape features, such as stretches, twists, and tilts, underlie variations in mutation rates across the human genome. The study suggests that these structural properties are conserved across species and play a crucial role in regulating gene expression.
The GEMINI blood test uses machine learning to identify cancer-causing mutations in single molecules of cell-free DNA. The test detected over 90% of lung cancers, including stage I and II cases, in a proof-of-concept study published in Nature Genetics.
Researchers at Florida Atlantic University uncover the finer-scale feeding patterns of the whitespotted eagle ray, revealing a significantly broader diet than previously described, with high proportions of cockles and wedge shells. The study's findings suggest that these rays can play a facilitative role in reducing predation threats f...
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A study analyzing genomic data from 34 fossils, including the famous sambaquis shell mounds, found that Luzio, São Paulo's oldest skeleton, was a descendant of the ancestral population that settled the Americas at least 16,000 years ago. The research also revealed differences between coastal and inland communities, suggesting two disti...
A new study using ancient DNA found that workers buried more than 500 years ago came from different parts of the Inca Empire, including Amazonia. The analysis supports historical documentation and archaeological studies, providing insights into the genetic histories and lifeways of Machu Picchu's occupants.
Researchers developed a new test that measures multiple characteristics of circulating tumour DNA to detect and localize multiple cancer types. The SPOT-MAS approach detected 73% of cancers with 97% accuracy, predicting the tissue of origin with 70% accuracy.
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A research team sheds light on Dmc1 filament assembly mechanisms using single-molecule experiments. Swi5-Sfr1 and Hop2-Mnd1 proteins regulate Dmc1 assembly through distinct mechanisms, promoting efficient strand exchange during homologous recombination.
Gang Bao's lab receives a 4-year, $2.6 million grant from the National Institutes of Health to investigate the safety and efficacy of using gene editing treatments like CRISPR-Cas9 to treat sickle cell disease. The team aims to understand the mechanisms behind large gene modifications and their biological consequences.
Scientists have developed a way to program virus particles' size and shape using DNA origami nanostructures, potentially advancing vaccine development and drug delivery. The approach uses electrostatic interactions between DNA nanostructures and capsid proteins to create user-defined assemblies.
A recent study by the Eustermann group at EMBL Heidelberg reveals that DNA packaging into hexasomes impacts the function of enzymes involved in gene regulation. The researchers used cryo-electron microscopy to visualize the molecular processes of how this packaging regulates genome expression and maintenance.
A new technique using DNA barcoding can identify the plant matter in human feces, improving clinical trials, nutrition studies and historical research. The method detected specific plant species and their relative amounts consumed, varying according to diet, age, and household income.
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Patients with GATA2 deficiency have impaired ability to produce immune cells, leading to increased risk of recurrent infections and blood cancers. The study's findings suggest that a zebrafish model may help develop new treatments to slow or reverse the disease.
Researchers have found a connection between high levels of cell-free mitochondrial DNA (mtDNA) fragments in the blood and chronic inflammation, a known risk factor for severe aging symptoms. The study suggests that mtDNA fragments could be accurate biomarkers for predicting physical and cognitive decline with aging.
Researchers developed Genome Architecture Mapping (GAM) to study DNA interactions, revealing novel three-dimensional configurations that were invisible to Hi-C. This technique provides a more comprehensive understanding of genome organization and its impact on health and disease.
Scientists using popular computational tools to interpret AI predictions are picking up too much 'noise' when analyzing DNA. Researchers have found a way to fix this by applying a new line of code, leading to more reliable explanations and potentially unlocking the next breakthrough in health and medicine.
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Researchers used a multiomics approach to analyze changes in transposable elements after influenza A virus infection, identifying transcription factors contributing to individual responses. The study provides insights into the variable severity of illness among individuals infected with the same virus.
A USC researcher and international team identified consistent DNA base pairs across 240 mammals, including humans, that play a key role in human disease. These 'constrained' base pairs remained generally consistent over millions of years of evolution and are significantly linked to genetic variation.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
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Researchers create high-resolution maps of the 3D genome, revealing interactions between enhancers and promoters that weren't previously seen. The findings suggest many genes interact with dozens of regulatory elements, opening possibilities for studying gene regulation and potentially understanding diseases.
A new study reveals that analyzing DNA can help predict which animals are most at risk of extinction. By examining the genomes of 240 mammal species, scientists found that those with smaller historical populations carry higher burdens of damaging mutations and are more likely to face extinction.
Large structural changes in human ancestors' genomes may have sparked smaller changes that set human brains apart from other primates. Researchers found that many enhancers, which regulate brain development, are located near these regions, suggesting a link between DNA folding and brain evolution.
Researchers have analyzed DNA samples from over 50 institutions, including Balto at the Cleveland Museum of Natural History, to shed light on extraordinary feats in mammals. The study has identified unchanged DNA across millions of years of evolution and pinpointed genetic variants associated with rare human diseases.
A new study finds that modern-day Scottish, Welsh and Northern Irish people share a common genetic heritage with ancient Pictish populations, contradicting long-held assumptions of exotic origins. The research also reveals surprising genetic similarities between Picts and present-day groups in the UK.
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Researchers develop PrimeRoot, a tool for efficient and precise targeted insertion of large DNA segments in plants, achieving efficiencies up to 6% and inserting segments up to 11.1 kb.
A new subspecies of rainbow trout, O. mykiss calisulat, has been identified after genetic analysis revealed its distinctiveness. This discovery is significant as it marks the first newly identified Pacific trout subspecies since 2008 and the youngest rainbow trout subspecies by more than 100 years.
Researchers at the CNIO have elucidated a key point about how cohesin attaches to DNA and forms loops. The study suggests that NIPBL is not necessary for cohesin to bind to DNA, but only for it to move and form DNA loops. This finding may be important in understanding Cornelia de Lange syndrome.
Scientists have developed a DNA editing tool called SAGE that makes it easier and faster to engineer microbes for various applications. The technology revolutionizes the process of modifying microbes, allowing researchers to advance fundamental biology and bioengineering.
Researchers used long-read sequencing to identify novel mutational patterns and complex genomic rearrangements in cancer genomes, including those associated with liposarcoma. This approach offers a more comprehensive understanding of DNA mutations and their impact on cell function.
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A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Researchers found that a large genetic region responsible for immune responses showed rapid evolution and more Mesolithic hunter-gatherer ancestry, suggesting that genetic variants already present in Europe were passed down preferentially. This suggests that diversity in immune genes may be just as important as adaptation to lifestyle.
Researchers analyzed DNA from Beethoven's hair to shed light on his chronic health problems, including progressive hearing loss. They found genetic risk factors for liver disease and evidence of a hepatitis B virus infection, which likely contributed to his death.
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A recent genomic study identifies two genetically distinct Ashaninka subgroups, suggesting a complex history of interactions with neighboring populations. The research also hints at a possible migration from southeastern South America or the Southern Cone, shedding new light on the genetic origins of this Indigenous group.
A recent study analyzed 7,301 metastatic breast cancer patients with MTAP loss, revealing younger age, higher TNBC cases, and BRCA1 mutations. The findings also suggest potential therapeutic agents targeting PRMT5 and MTA2 in MTAP-deficient cancers.
A research team led by Dr Gary Ying Wai Chan has uncovered a new mechanism that ensures correct DNA segregation in cell division, preventing cancer development. RIF1 and protein phosphatase 1 play a crucial role in resolving ultrafine DNA bridges, which can lead to DNA damage and genome instability if not properly resolved.
A new study links genetic changes in kidney cancer to patient outcomes, identifying four groups of patients based on mutation presence. This research may lead to more effective prediction of recurrence risk and personalized treatment for thousands of patients annually.
A recent study found that metformin users had distinct DNA methylation profiles compared to non-users, potentially revealing its role in longevity. The research identified several pathways related to delirium and aging, highlighting the need for further investigation into metformin's mechanism of action.
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Scientists at the University of Adelaide have constructed the first reference genome for psyllium husk, a versatile plant-derived product used to improve gut health and control blood cholesterol. The discovery will pave the way for improvements to the quality and quantity of psyllium crops.