Articles tagged with Genome Sequencing
Researchers found a genetic link between long repeated DNA sequences and schizophrenia. The study discovered rare tandem repeat expansions near genes associated with the disorder, contributing to dysfunction at synapses and disrupting gene function.
Researchers identified a region of the mouse genome associated with higher mutation rates, which is linked to a specific gene called Mutyh. This finding supports the theory that genetic differences can affect mutation rates, and may also shed light on cancer susceptibility.
Whole genome sequences of ancient Uruguayan Indigenous people provide a genetic snapshot of populations before European military campaigns decimated them. The results support the theory of separate migrations into South America, contradicting the idea of a single Native American race across North and South America.
Researchers at Karolinska Institutet have mapped the formation of hybrid strains in Trypanosoma cruzi, a parasite causing chronic infection and severe symptoms. These hybrids are more effective at evading the immune system and causing disease, but understanding their formation can help develop new diagnostic and treatment methods.
Researchers at King Abdullah University of Science & Technology (KAUST) have identified a stem rust resistance gene in Aegilops sharonensis and transferred it to common wheat. The new transgenic wheat lines show high levels of resistance to the stem rust pathogen, providing hope for mitigating the devastating effects of climate change.
An international team led by BGI-Research has produced the first spatiotemporal maps of cellular dynamics in mice, Drosophila, zebrafish, and Arabidopsis using Stereo-seq technology. This breakthrough enables scientists to analyze the distribution and placement of molecules and cells in situ and over time.
Researchers studied the genomes of squid, octopus, and cuttlefish to understand how they developed complex behaviors and organs. The studies found that cephalopod genomes are highly rearranged, with novel gene families that contribute to their unique traits, such as large brains and camouflage capabilities.
A new species of dusky salamander has been discovered in the Gulf Coastal Plain of Mississippi and Alabama, increasing knowledge of the region's biodiversity. The species, Desmognathus pascagoula, is similar to another recently discovered species but has distinct morphological, genetic, and geographic characteristics.
Researchers have mapped the connections between DNA and blood proteins in two large populations, providing insights into disease causes and potential treatment targets. The study's findings could shed light on health disparities and help develop new therapies.
A team of researchers at UC Riverside has discovered that a protein complex called CAF-1 controls genome organization to maintain lineage fidelity in blood stem cells. The study found that CAF-1 keeps specific genomic sites compacted and inaccessible to transcription factors, ensuring the expression of lineage-specific genes.
Researchers found that somatic mutations accumulated at a faster rate in Alzheimer's disease patients' brain cells, leading to DNA damage and dysfunction. This discovery provides a window into the molecular events of AD pathogenesis, potentially leading to novel treatments targeting these pathways.
A recent study led by scientists at Albert Einstein College of Medicine suggests that some smokers have robust mechanisms to limit mutations, protecting them from lung cancer. The findings could help identify those with an increased risk for the disease and warrant close monitoring.
Australian researchers have discovered a new neurodevelopmental disorder linked to the tumor suppressor gene FBXW7. The condition causes mild to severe developmental delay, intellectual disability, and other symptoms, with genetic variations in this gene found in 28 individuals from 32 families worldwide.
Researchers have assembled a comprehensive genome of the false clownfish, providing insights into its ecological behavior, evolutionary history and adaptability. The genome comparison with its orange-clownfish cousin reveals unique genes related to neurobiology, affecting their behavior and ecology.
Researchers have discovered 15 genomic loci that either accelerate or decelerate brain aging, offering potential new drug targets to combat Alzheimer's disease and other degenerative brain disorders. The study, led by USC researchers, found overlap with genes involved in depression, schizophrenia, and cognitive functioning.
A new technique called Operational Genomic Units (OGU) allows for improved resolution and simplicity in analyzing microbiome samples. By using individual genomes as basic units, researchers can pinpoint biologically relevant characteristics such as age and sex with greater accuracy.
The new T2T reference genome adds nearly 200 million base pairs of novel DNA sequences, including 99 genes likely to code for proteins. This completes the first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy.
Researchers have completed the first complete sequence of a human genome, providing new information on genetic variation and its impact on diseases. The study, led by Johns Hopkins University scientists, reveals over a million previously unknown genetic variants.
Scientists have deciphered the helmeted honeyeater's genome and created a genetic map to guide advanced genetic rescue methods. The new tools allow for precise breeding decisions, reducing inbreeding and its negative impact on population health.
A multicenter study found mutations in the SARS-CoV-2 N protein associated with increased viral loads and severe disease symptoms. The changes enabled the virus to hijack host cell translation machinery, leading to a life-threatening cytokine storm.
The Bank of Okinawa has awarded ¥1 million grants to two startups, Genome Miner and Menopause and Beyond, participating in the OIST Innovation Square Startup Accelerator Program. The grants aim to support their entrepreneurial journey and contribute to the development of the local economy.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Researchers found that fruit flies underwent widespread physical and genomic adaptation within weeks, with changes documented in 60% of their genome. The study's findings suggest a new paradigm for understanding the timescale of evolution, highlighting rapid and dynamic adaptation to environmental conditions.
The African BioGenome Project aims to sequence the genomes of Africa's endemic plants, animals, fungi, and protists. This will build resilience in breeding, sustainable food systems, and biodiversity conservation, aligning with the post-2020 Global Biodiversity Framework and the United Nations Sustainable Development Goals.
Researchers at Rice University developed a new program called Variabel to accurately identify 'low-frequency' variants of the virus that causes COVID-19. By distinguishing true variants from sequencing errors, Variabel enables rapid characterization of within-host variation, which could aid in discovering future mutations.
A study reveals that new bird species arise in lowland habitats before moving higher into mountainous areas, where genetic differences accumulate. The research suggests that climate fluctuations, particularly during the Pleistocene era, contributed to the evolution of these high-altitude populations.
A team of paleogeneticists successfully sequenced the genome of the extinct Christmas Island rat, but found that key genes related to olfaction were missing. The study reveals the challenges and limitations of de-extinction across all species, highlighting the need for a more nuanced approach.
A new DNA test has been developed to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than existing tests. The test uses Nanopore sequencing technology to scan for abnormally long repeats within patients' genes, which are the hallmarks of disease.
Researchers highlight recent advancements in pear genome sequencing, genetic transformation, and breeding technologies. The study provides a roadmap for future research, focusing on genome development, resequencing, and integrated omics technologies.
Scientists at Karolinska Institutet have developed a new high-precision tool to identify the function of noncoding DNA sequences, which may eventually contribute to the development of targeted drugs. The study reveals that these noncoding parts of patients' DNA are linked to genetic changes in diseases.
A study found that a subtype of Newcastle disease virus caused the deaths of dozens of pigeons in São Paulo City. The researchers sequenced the viral genome and identified tissue wounds to determine the cause of death, revealing subgenotype VI.2.1.2 as the responsible pathogen. The risk to humans and poultry is considered low.
Researchers have sequenced the genome of Candida glabrata, a deadly yeast infection that's resistant to antifungal drugs. The study found genes associated with virulence and drug resistance, shedding light on how the pathogen spreads and evolves.
A study by researchers at the University of Pennsylvania found that a domestic cat was infected with the SARS-CoV-2 delta variant, but without significant genetic changes. This discovery highlights the virus's ability to infect a wide range of hosts and raises questions about its evolution in different species.
A team of researchers from the University of Malta identified three high-risk gene variants associated with familial osteoporosis through whole genome sequencing. These variants were tested in a large case-control collection and found to be linked to bone mass and reduced protein function.
A genomic study found that England's 14-day quarantine measures for travelers helped prevent the spread of SARS-CoV-2, particularly among 16-20 year olds. The study analyzed contact-tracing data and genome sequences to track the spread of genomes from imported cases.
The Colorado potato beetle has evolved rapid resistance to insecticides by leveraging its existing genetic diversity, allowing different populations to quickly adapt and overcome new chemicals. This wealth of diversity will likely make the pest difficult to control in the future.
Researchers used Hi-C sequencing to identify three-dimensional chromosome structures in 11 carnivore species, showing conserved chromatin structures across families despite millions of years of evolution. This approach could facilitate identifying related genes and placing them in context.
A new bacterial strain, Noda2021, belonging to Candidatus phylum Dependentiae has been isolated and sequenced, revealing its genetic material and potential ecological significance. This discovery sheds light on the diversity of microorganisms in Japan's microbiological hotspots.
Researchers at UC Davis MIND Institute found a novel gene linked to autism spectrum disorder in newborns. The study analyzed DNA methylation signatures in the placenta, which reflected fetal brain development and early autism diagnosis.
Scientists found a protective gene that counters a deleterious mutation causing atrial septal defects, allowing some people with the mutation to thrive. The discovery provides valuable clinical information for families affected by congenital heart disease.
A research team led by University of Adelaide found tangible evidence that Australian elapids arrived by sea rather than land. The study analyzed genomes of two Australian elapids and compared them to marine and semi-marine elapid sea snakes, finding similarities with marine life genes.
A researcher is studying the pufferfish genome to understand its evolutionary history and how it developed distinctive physical traits. The study aims to uncover the underlying genetic mechanisms behind the fish's varying body shapes and extreme sizes.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A comprehensive 'vertical map' of airborne microorganisms has been created, showing that temperature is the single most important factor influencing their composition. As global temperatures rise, this could lead to significant changes in the air microbiome, affecting human health and food security.
The first US peer-reviewed study on omicron patient outcomes found significant differences in infection behavior. Ominron patients are significantly younger, have increased vaccine breakthrough rates, and are less likely to be hospitalized compared to patients with alpha or delta variants.
Scientists have discovered that the genomes of marine invertebrates have been surprisingly stable across deep time. The study found that chromosomes are remarkably similar among sponges, jellyfish, scallops, and even humans, with some genes traveling together for almost a billion years.
Scientists have developed a gene-silencing tool that can quash gene activity across generations using small noncoding RNA molecules. This technique, called piRNAi, has expanded the molecular toolkit for gene manipulations and allows for more detailed investigations in nematode worms.
A new Northwestern Medicine study found a probable variant of concern, eta, circulating in Nigeria in early 2021, but was grossly underreported globally. The study discovered that eta had characteristics of a variant of concern and outcompeted the alpha variant in West Africa.
Researchers are using a salamander virus to predict the future of biodiversity amid a changing climate. The study aims to create better models to understand how climate change and infectious diseases interact, with potential implications for conserving species at risk of extinction.
Roswell Biotechnologies has developed a molecular electronics sensor on a semiconductor chip, enabling real-time detection of single molecules for diverse applications including drug discovery, diagnostics, and DNA sequencing. The platform offers unlimited scalability in sensor pixel density and high resolution measurements.
The Earth BioGenome Project aims to generate reference genomes for all eukaryotic life, providing tools for preventing biodiversity loss and pathogen spread. With over 5,000 scientists involved, the project is entering a new phase with ambitious goals, including producing genomes for 9,400 taxonomic families.
Scientists at UC Berkeley developed a new structure prediction method that modeled 500 secreted proteins in fungal pathogen Magnaporthe oryzae. The method revealed novel sequence-unrelated effectors and common folds among plant pathogens.
Ancient Mesopotamian societies produced equid hybrids called kungas by crossing domestic donkeys with wild asses, offering a unique combination of strength and control. These animal hybrids were used for warfare and travel before the arrival of domestic horses in the region.
The Sanford Children's Genomic Medicine Consortium has initiated a whole genome sequencing research project to investigate undiagnosed illnesses in children with suspected inborn errors of immunity. The study aims to sequence the genomes of up to 25 patient genomes and learn information that can benefit patients and others.
A new study has identified 74 previously unknown genomic regions that influence how people's bodies break down food into energy. These findings could help develop more personalized ways to maintain a healthy weight by taking into account an individual's genetic profile.
Researchers have discovered a molecular mechanism that contributed to the emergence of the seventh cholera pandemic. The study found that modified Vibrio cholerae bacteria used their type 6 secretion system (T6SS) to outcompete and kill older strains, leading to their displacement.
Researchers used new technology to study Grapevine Pinot gris virus propagation in a specific vineyard in France. The study found that over 75% of tested plants became infected between 2014 and 2015, with only a marginal number of grapevines testing positive during the remaining five years.
Scientists have analyzed the lychee genome to uncover its ancient history and identify genetic markers for breeding programs. The study found that lychees were domesticated independently in two regions of China, Yunnan and Hainan, leading to early- and late-maturing varieties.
Researchers have found COVID-19 infection in white-tailed deer in six northeast Ohio locations, suggesting the virus may be spreading among wildlife. The study's findings indicate that infected deer can potentially harbor new strains of SARS-CoV-2, complicating human mitigation and control plans.
A new study provides a detailed timeline of mammal evolution, confirming that modern placental mammal groups postdate the K-Pg extinction. The researchers used a novel computational approach to analyse a large genomic dataset and answer a long-standing question about mammal origins.