Articles tagged with Genomics
This special issue highlights novel applications and developments in long-read sequencing, offering advances in genome assembly and annotation, characterization of complex genomic rearrangements, and full-length mRNA isoform resolution. Long-read technologies are expanding understanding of rare diseases and impacting germline testing.
Exposure to multiple environmental stressors simultaneously impairs the ability of herring larvae to react at a molecular level, reducing their capacity for acclimatization. This can lead to increased protein damage and cell injury, potentially affecting growth and survival.
The study found that DNA packaging sends signals through an unusual pathway, affecting cell division and growth. Chromatin acts as a guide, telling the cell how to read and use the information in the DNA.
A groundbreaking metagenomic sequencing test has proven effective in rapidly diagnosing almost any kind of pathogen, including viruses, bacteria, fungus or parasite. The test analyzes all nucleic acids present in a sample, replacing multiple tests with a single one and speeding up diagnosis.
A team of biologists at UT Arlington has discovered a new species of gecko, Pseudogonatodes fuscofortunatus, with distinct skeletal features and genetic data. The discovery highlights the unique characteristics of this tiny lizard, found in the Paria Peninsula of Venezuela.
A study analyzing DNA from skeletal remains in Pompeii casts reveals the cosmopolitan origin of the city's inhabitants, contradicting previous physical appearance-based assumptions. Genetic data also sheds light on ancestry, sex, and familial relationships, challenging traditional notions.
Researchers found that AI tools can link genetic variations with diseases like diabetes without considering the complexity of genetics. A new statistical method can reduce false positives, but proxy information studies also introduce misleading correlations, warns Qiongshi Lu.
The study shows an alternating series of interaction and gene flow between inhabitants of mountainous upland regions and steppes to the north of the Caucasus. Innovations in herd management, dairying, and mobility enabled autonomous nomadic lifestyles adapted to exploit the Eurasian steppe zone.
The ASHG 2024 Annual Meeting will showcase the latest research in human genetics and genomics. The event will feature a Presidential Symposium on Mendelian traits and a Distinguished Speakers Symposium on the promise of human genetics and genomics, among other sessions.
A new genomic study reveals high genetic diversity and low inbreeding in the endangered Oriental Stork population, a common finding in many critically endangered species. The study provides hope for the species' long-term survival and suggests that protecting its habitats could rapidly rescue this species from extinction.
Researchers at UC San Diego have developed a faster and more affordable method to study chromatin organization, which influences gene activation and cell function. The droplet Hi-C technique has been successfully deployed to analyze chromatin organization in mouse brain cells and human tumors.
Researchers identified a protein that could improve the cardiovascular health of patients with progeria, a rare genetic disorder. The discovery provides promising insights into potential treatments targeting cardiovascular complications in HGPS.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
This special issue presents a collection of 20 computational methods and their applications in genomics, including spatial, single-cell, and long-read sequencing. Key findings include the development of PRiMeR for disease risk predictors and SF-Relate for identifying genetic relatives across distributed genomic datasets.
The red milkweed beetle's genome has been sequenced, providing insights into how it safely feeds on toxic plants. The study found an apparent expansion of genes related to toxin sequestration and metabolic enzymes.
Researchers analyzed ancient genomes from the Oakhurst rock shelter in southern Africa, finding that the oldest genomes are genetically similar to San and Khoekhoe groups living today. The study reveals a long history of relative genetic stability until around 1,200 years ago when newcomers introduced new cultures and languages.
Scientists developed VenomCap to analyze venom genes in snakes, shedding light on snake evolution and developing effective treatments for deadly snake bites. The technique enables quicker analysis of thousands of venom-making genes, paving the way for improved antivenom development and global public health.
Researchers have identified a new epigenetic mark, 5-formylcytosine, which plays a crucial role in activating genes during early embryonic development. This discovery sheds light on the regulation of gene expression in vertebrates and has implications for our understanding of human development and disease.
A new study from European universities has developed a method to analyze wastewater data from seven major cities, identifying thousands of disease-causing bacteria, viruses, and antimicrobial resistance. This approach can detect potential health threats simultaneously, potentially preventing epidemics from escalating into outbreaks.
A $7M grant is supporting a four-year project to breed wide hybrids of muscadines and Vitis vinifera, combining desirable traits like disease resistance and crisp texture. The goal is to introduce new grape hybrids with enhanced quality leading to a more resilient US grape industry.
A new machine-learning model developed by a University of Arkansas student improves upon existing genotype-by-environmental interaction models, achieving higher prediction accuracy. The model uses feature engineering to process environmental data, leading to a 7% improvement in mean prediction accuracy.
Researchers discovered a non-virulent bacterium, Mycobacterium spongiae, that shares 80% of its genetic material with M. tuberculosis, shedding light on the disease's origins. The study provides valuable insights into the evolution and virulence of TB.
Scientists have mapped the global repertoire of genes that determine the male or female sexual fates in Plasmodium falciparum malaria parasites. This study reveals key regulators of gene expression during development and identifies novel candidate 'driver' genes, shedding light on the complex biology of malaria transmission.
Michigan State University researchers have developed a method for CRISPR-based genome editing in Nile grass rats, which are diurnal rodents with sleep patterns similar to humans. This breakthrough could provide an alternative model for studying human health and disease, as existing models rely heavily on laboratory mice.
Researchers developed a new 'pan-pathogen' deep sequencing approach to capture multiple bacterial strains simultaneously. This method enables faster and more comprehensive tracking of antibiotic-resistant bacteria, potentially preventing and managing common hospital infections quicker.
Researchers have created the first spatial map of malaria infection in the mouse liver using Spatial Transcriptomics and single-cell RNA-sequencing. This discovery sheds light on the parasite's lifecycle, revealing changes in host cell gene expression near infected areas.
Researchers at the University of Bologna have identified a specific location and genomic context where DNA breaks occur due to topoisomerase I inhibition. This discovery could lead to new cancer treatments by inducing DNA damage and genomic instability in cancer cells.
Researchers developed a novel nanosensing technique to measure viral vector characteristics, enabling quality control of AAV vectors for safe and effective gene therapy. The approach uses nanopore sensing to detect defects in viral particles, offering potential solutions for reducing side effects and improving treatment outcomes.
Researchers have discovered a dynamic cross-kingdom horizontal gene transfer between plants and bacteria, transferring 75 genes that enhance carbohydrate metabolism and hormone synthesis. This finding opens up exciting possibilities for biotechnological applications in agriculture.
Researchers combined DNA markers from two genotyping systems to improve genomic predictions and GWAS for 24 fruit traits. The results showed increased accuracy and detection power when using combined datasets, suggesting benefits to leveraging historical data.
A multidisciplinary team developed GeneMAP to probe gene function in metabolism. They identified SLC25A48 as necessary for mitochondrial choline transport and associated it with eight human diseases.
A new system named SQUID, a computational tool created by Cold Spring Harbor Laboratory scientists, helps interpret how AI models analyze the genome. It reduces background noise and leads to more accurate predictions about genetic mutations.
A study by TUM researchers discovered four subtypes of Amyotrophic Lateral Sclerosis (ALS) with different molecular processes, including sex differences. The findings suggest repurposing an approved cancer drug targeting the MAPK pathway as a promising therapeutic approach for ALS.
A team of researchers, including OHIO's Nate Szewczyk and students, published a comprehensive package of papers in Nature journals that transform our understanding of human space biology. The studies reveal how molecular biology and precision medicine can guide humanity into more challenging missions beyond Earth.
A new study uncovers how different people respond to sepsis based on their genetic makeup, which could help identify who would benefit from certain treatments. The research found two groups of patients with opposite immune responses and identified the genetic regulators involved.
Researchers reconstructed ancient genomes of Plasmodium vivax and Plasmodium falciparum malaria parasites to study their worldwide spread. The analysis revealed that European colonizers introduced P. vivax to the Americas, while military activities in Europe facilitated the spread of P. falciparum.
A genetic investigation of 64 child remains found at Chichén Itzá reveals that all the children were male, indicating related male twins were likely selected for ritual activities. The findings suggest a post-sacrificial burial site, with the sacrificed individuals having been chosen for a specific reason.
Researchers from Tokyo Medical and Dental University used long-read RNA sequencing to decode genetic intricacies and disease links. The study identified novel isoforms, cell-type-specific splicing patterns, and disease-linked transcripts associated with immune-related diseases.
A new genetic analysis of Celtic burial mounds in Baden-Württemberg, Germany, confirms the long-held suspicion that two princes were biologically related. The study finds a close relationship between the two individuals and suggests that power structures among early Celtic elites may have been based on biological kinship.
The study reveals remarkable variation between primate Y chromosomes, showing rapid evolution and previously unstudied regions. The researchers found that over 90% of ape X chromosome sequences aligned to the human X chromosome, while only 14-27% of ape Y chromosome sequences aligned to the human Y chromosome.
Researchers create largest and most advanced multidimensional maps of gene regulation networks in the brains of people with and without mental disorders. The study uses postmortem brain tissue from over 2,500 donors to map gene regulation networks across different stages of brain development and multiple brain-related disorders.
Researchers have developed a new gene-editing system called multiplexed orthogonal base editors (MOBEs) to tackle complex diseases. MOBEs enable simultaneous installation of multiple point mutations across the genome, reducing the risks associated with traditional gene-editing tools like CRISPR-Cas9.
Researchers found that horns and antlers share fundamental aspects and likely originated from a single ancestral structure. The study supports the idea that headgear evolved as elaborations on this shared bony structure inherited from a common ancestor.
A groundbreaking IBD study aims to identify biomarkers for personalized treatment, monitoring, and prediction. Researchers will collect genomic data from 1,000 newly diagnosed patients in the UK over four years.
FutureNeuro, a leading SFI Research Centre, is expanding its research programme with a focus on diagnostics, therapeutics, and digital health. The centre aims to develop precision diagnostics, future treatments, and systems using real-time health data.
Researchers created GraSSRep and rhea, tools that outperform current methods for handling repeats and structural variants in metagenomic data. These methods use self-supervised learning and graph neural networks to analyze microbiome data, offering new insights into biological processes and potential applications in antibiotic resistance.
Researchers have discovered that medieval English red squirrels hosted the leprosy bacterium M. leprae, shedding light on potential transmission pathways between animals and humans during the Middle Ages. This finding highlights the importance of understanding animal hosts in predicting disease persistence.
The Hong Kong Biodiversity Genomics Consortium has launched a project to sequence the genomes of its eukaryotic biodiversity, which is rich in species but threatened by climate change. The first five genomes have been published in GigaByte Journal to coincide with International DNA Day.
Researchers at University of California San Diego School of Medicine have identified hundreds of new genes associated with tobacco use disorder, including those linked to psychiatric and medical conditions. The study also identified hundreds of potential drug candidates that could help treat the disease.
A mysterious plasmid, pBI143, found in 90% of human intestines, could be used to identify faecal contamination and offer insights into intestinal diseases. The discovery also highlights the prevalence of 'cryptic' plasmids in human gut microbiota.
A new study reveals that wildebeest populations which no longer migrate are less genetically healthy and more prone to decline. The loss of migration routes due to fencing and roads leads to lower genetic diversity, increased inbreeding, and reduced fertility.
Researchers have identified new genetic variants linked to susceptibility of cervical cancer-causing virus, raising the risk of getting cervical cancer from high-risk HPV infection. The study found polygenic risk scores to determine likelihood of having prevalent or persistent HPV infections.
Scientists have discovered genetic variants in BSN and APBA1 genes linked to adult-onset obesity, type 2 diabetes, and fatty liver disease. These variants are associated with a significant increase in obesity risk, highlighting a new biological mechanism for the condition.
An interdisciplinary team of researchers developed an AI system capable of deciphering genomic language and understanding its functional and regulatory grammar. The Genomic Language Model (gLM) learns from highly diverse metagenomic data, providing insights into gene functions, regulation, and evolutionary relationships.
The ACMG Foundation for Genetic and Genomic Medicine has presented seven Next Generation fellowship awards to promising early career professionals in medical genetics and genomics. The recipients include Xueyang Pan, Bianca Seminotti, and Adriel Yejin Kim, who will support their research projects with corporate donations from Pfizer, S...
Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.
A team of scientists at Pohang University of Science & Technology uncovered the molecular mechanism responsible for crossover interference during meiosis, a biological process that generates genetically diverse reproductive cells. The findings have significant implications for breeding and cultivating crops with specific desired traits.
Researchers studied Prorocentrum cordatum to understand its molecular processes, revealing a unique photosynthetic machinery that may help it adapt to changing light conditions. The findings could lead to improved understanding of harmful algal blooms and their role in climate change.
A new genetic marker for cardiomyopathy has been identified through whole genome sequencing, suggesting that tandem repeat expansions may cause four percent of cases. This discovery provides a promising lead for early detection and the development of precision therapies.
The National Genomics Data Center has established a series of core archiving repositories for collecting and archiving multi-omics data, including Genome Sequence Archive and Genome Variation Map. These resources support worldwide data submission, archiving, preservation, and sharing.