Articles tagged with Genomic Analysis
The European Society of Human Genetics urges caution on using new genetic sequencing techniques due to potential risks and benefits. The society recommends targeted analysis to limit unsolicited findings, ensuring patients' rights are protected while also providing them with necessary health information.
Researchers at the University of Montreal used genome-wide analysis to identify a previously unknown type of adrenal insufficiency in two children. The treatment regime eliminated the need for fludrocortisone treatment and reduced lifetime risk of hypertension, saving $10,000 per patient.
The Wuzhishan Pig's whole-genome sequence reveals a wealth of genetic tools for studying complex diseases common to humans. The pig's genome contains a large number of similar drug target genes, making it an excellent model for therapeutic drug testing.
The Association for Molecular Pathology report on next-generation sequencing technology addresses current technical, bioinformatic, and clinical implementation considerations. The report aims to improve patient care by exploring the clinical relevance and impact of NGS technologies.
A comprehensive transcriptome analysis of human ENCODE cells reveals widespread RNA transcripts and epigenetic links, assigning biochemical functions to 80% of the human genome. The study provides powerful data sets for delineating functional elements across the human genome.
Researchers used genome-wide array analysis to find that parents of affected children often have previously undetected genetic abnormalities. These abnormalities can increase the risk of having another affected child, and understanding them can help provide better genetic counseling.
Researchers at the University of Hohenheim have developed a new technique to select promising parent plants for corn breeding, allowing for faster development of high-yielding varieties. By analyzing DNA and substance composition, scientists can predict a plant's genetic potency and breeding capabilities, saving time, money, and acreage.
The Galaxy platform is now available as a cloud computing resource, providing researchers with access to powerful computing power and vast data storage capacity. This development enables scientists to perform large-scale DNA analyses without investing in expensive computer infrastructure.
The study improves computational tools for medical interpretation of genomes, enabling disease-risk prediction and personalized medication responses. The research involves a four-person family with a history of blood clotting, allowing for the identification of genetic variants associated with health risks.
A team of scientists used BGI's rapid, bench-top DNA sequencing technology to analyze the deadly E. coli O104:H4 outbreak in Germany, revealing a new model of international collaboration for infectious disease control. The study found that genome sequencing provides the foundation to identify and characterize novel pathogens.
The open-source software, GenPlay, is designed to help biologists visualize, analyze and transform raw genomic data. Biologists can now analyze their own data using a user-friendly tool that provides continuous visual feedback, making it easier to make sense of the avalanche of new data.
RIKEN researchers developed a new gene expression analysis technique called HeliScopeCAGE that can measure gene expression levels using only 100 nanograms of total RNA. This technique reduces biases and generates highly reproducible data, enabling high-precision gene expression analysis from tiny samples.
Genomatix introduces mygenomatix, a cloud-based NGS data analysis service providing fast turnaround times, access to full software content, and biological results. The service addresses the challenge of handling large datasets, offering security, ease of use, and affordability.
A multinational team identified a novel retinal disease gene, FAM161A, linked to RP28-associated recessive retinitis pigmentosa through ChIP-Seq analysis with Genomatix Genome Analyzer. The study provides new insights into visual perception and opens potential therapy avenues.
Researchers from McGill University have discovered that mutations in the SCARF2 gene are responsible for Van Den Ende-Gupta syndrome, an extremely rare genetic disorder characterized by unique head and facial features. The study utilized a high-tech genome analyzing machine to quickly sequence coding portions of the human genome and id...
Researchers reanalyze mitochondrial genome data to reveal new insights into the initial peopling of North America, confirming 15 founding maternal lineages from Beringia. The study's findings suggest that genetic diversity was significantly underestimated in previous estimates.
A powerful new genome barcoding system has revealed large-scale structural variations in the human genome, including variations of thousands to hundreds of thousands of DNA's smallest pieces. This technology allows for a comprehensive view of the human genome and may lead to breakthroughs in disease treatment and personalized genomics.
A large-scale genetic analysis of 17,296 women identified 43 genetic loci contributing to lipoprotein metabolism, providing new insights into the molecular basis of cardiovascular disease. The study also quantifies the contribution of common genetic variation to plasma lipoprotein concentrations.
A special issue of Genome Research explores personal genomics, revealing novel biological insights gained from individual genomes. The study found significant genomic variation between closely related ethnic groups and the role of mobile elements in creating structural variation.
Complete Genomics successfully sequenced a Caucasian HapMap sample, generating 91x average read coverage of the genome in a matter of days. The company's system delivered unprecedented throughput, producing 254 Gigabases (Gb) of mapped data, and demonstrated an average run rate of over 70 billion mapped bases per run.
The journal features two new methods: one for detecting copy number variation in genomes using PennCNV software, and another for studying ion differences across membranes in plant cells using patch clamping. These techniques provide a more comprehensive understanding of genome variation and cellular responses.
Researchers developed a comparative genomics strategy to rapidly describe outbreak strains using next-generation DNA sequencing technology. This approach enables the identification of unique genetic properties of a potential outbreak strain in a matter of weeks, potentially saving time during emergency responses.
The U.S. Department of Energy Joint Genome Institute has released an upgraded version of its IMG/M metagenome data management and analysis system, featuring five new metagenome datasets from recent studies on termite hindgut microbiota and TM7 microbe. The new system now contains 2,953 reference genomes.
A recent study integrates lipid metabolic profiling with gene expression analysis, demonstrating the synergistic power of combining metabolic profiling with proprietary microarray analysis methods. The results show that Por can be considered an enzyme critical for proper functioning of lipid mobilization in the mouse liver.
The Human Genome Sequencing Center at Baylor College of Medicine has acquired seven additional Genome Sequencer FLX Systems from 454 Life Sciences, a Roche company. The center will use these instruments to analyze genetic changes in diseases such as cancer, heart disease, and asthma.
Professor Xihong Lin at Harvard T.H. Chan School of Public Health has been awarded a MERIT Award for developing statistical methods to analyze correlated and high-dimensional data in cancer research. The award will support his work on longitudinal and familial data, as well as genomic and proteomic data in epidemiological studies.
The Integrated Microbial Genomes (IMG) data management system has been updated with new microbial genomes from NCBI's RefSeq collection, model eukaryotic genomes, and plasmids. This update brings a total of 2,782 genomes to the system, including 481 new public microbial genomes.
Tetrahymena thermophila has two distinct nuclei, each with a different genome, and its macronuclear genome expresses genes governing behavior. The study reveals gene duplication in genes involved in sensing and responding to environment.
The NIH has renewed its license with Genomatix, expanding the contract to include Microarray analysis Package ChipInspector. This move strengthens research capabilities in gene expression and regulation, facilitating high-level scientific results.
Researchers created a genomic analysis tool to study critically ill patients, enabling physicians to predict treatment responses and develop new therapeutic strategies. The technology allows for the detection of significant gene activity differences between trauma patients and healthy individuals.
The study reveals that antisense transcripts (SATs) are widely expressed in various mouse tissues and cell cultures, exhibiting tissue-specific expression patterns. SATs tend to be poly(A)-negative and enriched in the nucleus, suggesting a functional role in gene regulation.
A computer scientist at Washington University in St. Louis has developed a novel technique to extract more DNA from a single sequence reaction, reducing both cost and time of the sequencing process. The approach uses software that sorts through genetic information and finds predicted sequences, with 59% of predicted genes verified as e...
Under the contract, TIGR will sequence dozens of genomes per year to provide data for vaccine and antimicrobial drug development projects. The institute's affiliated facility has already conducted sequencing for over 50 organisms, including microbes that cause various diseases.
Researchers sequenced 99.4% of gene-containing regions on chromosome 7 with high accuracy, revealing duplicated segments that may contribute to genetic diseases. The analysis also identified approximately 1,150 protein-coding genes, shedding light on the genetic basis of human disease.
Researchers have identified 60 new genomic markers that can help distinguish between various anthrax isolates, enabling faster identification of outbreak strains and potentially deterring future biological attacks. The discovery is part of a comprehensive database project aimed at analyzing natural variation in all major pathogens.
Case Western Reserve University has received a $2.2 million grant from the Charles B. Wang Foundation to establish the Center for Computational Genomics. The center will tackle cutting-edge problems in genomics and bioinformatics, focusing on genomic analysis and disease prevention.
SEQUENOM successfully validated the largest collection of gene-based SNPs to date, identifying 3,148 previously unknown SNPs. The company's MassARRAY system enabled rapid and high precision SNP allele frequency determination in pooled DNA samples.
A new technique using self-organizing maps can quickly analyze the activities of thousands of genes, grouping similar genes together. This allows researchers to identify patterns in gene expression and potentially discover unknown genes, leading to new insights into human health and disease.
Perkin-Elmer and SmithKline Beecham collaborate on bioinformatics research to speed drug discovery. The partnership aims to develop sophisticated systems for data collection, analysis, and management.