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PubMed Journals Articles About "Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses" RSS

01:42 EST 15th November 2018 | BioPortfolio

Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses articles that have been published worldwide.

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We have published hundreds of Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses news stories on BioPortfolio along with dozens of Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses Clinical Trials and PubMed Articles about Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses for you to read. In addition to the medical data, news and clinical trials, BioPortfolio also has a large collection of Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses Companies in our database. You can also find out about relevant Rapid Whole Genome Sequencing StatSeq Diseases Diagnoses Drugs and Medications on this site too.

Showing "Rapid whole genome sequencing StatSeq Diseases Diagnoses" PubMed Articles 1–25 of 21,000+

Enabling genome-wide association testing with multiple diseases and no healthy controls.

While large-scale whole genome sequencing is feasible the high costs compel investigators to focus on disease subjects. As a result large sequencing datasets of samples with different diseases are often readily available, but not healthy controls to contrast them with. While it is possible to perform an association study using only diseases, the associations could be driven by a disease acting as a control and not the focal disease.


An outpatient clinic as a potential site of transmission for an outbreak of NDM-producing Klebsiella pneumoniae ST716: a study using whole-genome sequencing.

The incidence of nosocomial infections due to carbapenem-resistant Klebsiella pneumoniae is increasing worldwide. Whole genome sequencing (WGS) can help elucidate the transmission route of nosocomial pathogens.

Whole-genome sequencing in a pair of monozygotic twins with discordant cleft lip and palate subtypes.

Orofacial clefts (OFCs) are common and aetiologically complex birth defects. This study explored potential genetic differences in a pair of Japanese monozygotic (MZ) twins with different forms of OFC using whole-genome sequencing.


Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease.

Genome-wide association studies (GWAS) have identified common variants associated with chronic obstructive pulmonary disease (COPD). Whole-genome sequencing (WGS) offers comprehensive coverage of the entire genome compared with genotyping arrays or exome sequencing.

Complete genome sequencing of Comamonas kerstersii 8943, a causative agent for peritonitis.

Because of poor differentiation among the members of genus Comamonas using phenotypic methods, human infections caused by C. kerstersii are sporadically reported in the literature. Here, we represent the first complete genome sequence of C. kerstersii 8943, which caused peritonitis in a patient with continuous ambulatory peritoneal dialysis (CAPD). The complete genome with no gaps was obtained using third-generation Pacific Biosciences (PacBio) RSII sequencing system with single-molecule real-time (SMRT) an...

Whole-Genome Bisulfite Sequencing for the Methylation Analysis of Insect Genomes.

DNA methylation is a conserved epigenetic modification of animal genomes, but genome methylation patterns appear surprisingly diverse in insects. Whole-genome bisulfite sequencing (WGBS) represents a sensitive and robust method for the characterization of genome-wide methylation patterns at single-base resolution. Here, we describe a step-by-step protocol for the generation and analysis of WGBS datasets using standard Illumina sequencing platforms. In comparison to whole-genome sequencing, WGBS has addition...

AFLP-AFLP in silico-NGS approach reveals polymorphisms in repetitive elements in the malignant genome.

The increasing interest in exploring the human genome and identifying genetic risk factors contributing to the susceptibility to and outcome of diseases has supported the rapid development of genome-wide techniques. However, the large amount of obtained data requires extensive bioinformatics analysis. In this work, we established an approach combining amplified fragment length polymorphism (AFLP), AFLP in silico and next generation sequencing (NGS) methods to map the malignant genome of patients with chroni...

Development of the Knowledge of Genome Sequencing (KOGS) questionnaire.

Whole-genome sequencing is being implemented in research and clinical care, yet tools to assess patients' knowledge are lacking. Our aim was to develop a robust measure of whole-genome sequencing knowledge suitable for patients and other stakeholders including research participants, public, students, and healthcare professionals.

Rapid resolution of MDR bacterial genome harboring mcr-1 and bla using MinION sequencing platform.

Sequencing of Treponema pallidum subsp. pallidum from isolate UZ1974 using Anti-Treponemal Antibodies Enrichment: First complete whole genome sequence obtained directly from human clinical material.

Treponema pallidum subsp. pallidum (TPA) is the infectious agent of syphilis, a disease that infects more than 5 million people annually. Since TPA is an uncultivable bacterium, most of the information on TPA genetics comes from genome sequencing and molecular typing studies. This study presents the first complete TPA genome (without sequencing gaps) of clinical isolate (UZ1974), which was obtained directly from clinical material, without multiplication in rabbits. Whole genome sequencing was performed usin...

Evaluation of MinION nanopore sequencing for rapid enterovirus genotyping.

Enteroviruses (EV) are associated with a range of serious infections, including aseptic meningitis, hand foot and mouth disease, myocarditis, acute flaccid paralysis and encephalitis. Improved methods for assessing EV genotypic diversity could assist molecular epidemiology studies, clinical diagnosis and environmental surveillance. We report new methods for EV genome amplification, and subsequent genotyping using the miniaturised MinION sequencing device. Importantly, this next-generation sequencer enabled ...

Why 3D genome alternations play important roles in diseases.

The present issue with enthusiasm overviews technologies to detect 3D genome structures, relationship of 3D genome and diseases, and potential mechanism of regulatory elements to maintain 3D genome stability. Rapid development of biotechnology provides more powerful approach to monitor dynamic changes of genome dimensions and organization as well as function. Disorganization and dysfunction of 3D genome, compartments, TADs, chromosomal loops, and intranuclear microenvironments play central roles in initiati...

Whole Genome Sequencing of NDM-1-Producing ST11 Klebsiella pneumoniae Isolated in a Private Laboratory in Greece.

The emergence and spread of NDM-1-encoding Klebsiella pneumoniae is causing worldwide concern, whereas a second epicenter of their dissemination after the Indian subcontinent is thought to be located in the Balkans. In this study, the complete genome sequencing of an NDM-1-producing ST11 K. pneumoniae isolated in a private laboratory in Greece is presented. The genome sequencing was performed on Illumina MiniSeq. Multilocus Sequence Typing was determined using a BLAST-based approach whereas antimicrobial re...

Tigmint: correcting assembly errors using linked reads from large molecules.

Genome sequencing yields the sequence of many short snippets of DNA (reads) from a genome. Genome assembly attempts to reconstruct the original genome from which these reads were derived. This task is difficult due to gaps and errors in the sequencing data, repetitive sequence in the underlying genome, and heterozygosity. As a result, assembly errors are common. In the absence of a reference genome, these misassemblies may be identified by comparing the sequencing data to the assembly and looking for discre...

A decade of genome sequencing has revolutionized studies of experimental evolution.

Genome sequencing has revolutionized studies using experimental evolution of microbes because it readily provides comprehensive insight into the genetic bases of adaptation. In this perspective we discuss applications of sequencing-based technologies used to study evolution in microbes, including genomic sequencing of isolated evolved clones and mixed evolved populations, and also the use of sequencing methods to follow the fate of introduced variations, whether neutral barcodes or variants introduced by ge...

Genome Size Estimation and Quantitative Cytogenetics in Insects.

With care, it is possible using flow cytometry to create a precise and accurate estimate of the genome size of an insect that is useful for genomics, genetics, molecular/cell biology, or systematics. Genome size estimation is a useful first step in a complete genome sequencing project. The number of sequencing reads required to produce a given level of coverage depends directly upon the 1C amount of DNA per cell, while an even more critical need is an accurate 1C genome size estimate to compare against the ...

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.

In a Policy Forum, Muin Khoury and colleagues discuss research on the clinical application of genome sequencing data.

Urine Antigen Detection as an Aid to Diagnose Invasive Aspergillosis.

Establishing rapid diagnoses of invasive aspergillosis (IA) is priority, given poor outcomes of late therapy. Non-culture based tests that detect galactomannan and β-D glucan are available, but are technically cumbersome and rely on invasive sampling (blood or bronchoalveolar lavage).

Long-read whole genome sequencing and comparative analysis of six strains of the human pathogen Orientia tsutsugamushi.

Orientia tsutsugamushi is a clinically important but neglected obligate intracellular bacterial pathogen of the Rickettsiaceae family that causes the potentially life-threatening human disease scrub typhus. In contrast to the genome reduction seen in many obligate intracellular bacteria, early genetic studies of Orientia have revealed one of the most repetitive bacterial genomes sequenced to date. The dramatic expansion of mobile elements has hampered efforts to generate complete genome sequences using shor...

Reporting of Clinical Genome Sequencing Results.

High-throughput sequencing and high-performance computing technologies have become powerful tools in clinical genetic diagnosis of hereditary disorders and genetic screening of healthy individuals to provide information for the diagnosis, treatment, and prevention of diseases or impairment and assessment of health. For patients with undiagnosed disorders, including many rare disorders, the whole-genome sequencing (WGS) test may end the diagnostic odyssey, ultimately guiding clinical care for them and their ...

Genome editing in the mammalian brain using the CRISPR-Cas system.

Recent advances in genome editing technologies such as the clustered regularly interspaced short palindromic repeats (CRISPR)-associated endonuclease Cas9 have enabled the rapid and efficient modification of endogenous genomes in a variety of cell types, accelerating biomedical research. In particular, precise genome editing in somatic cells in vivo allows for the rapid generation of genetically modified cells in living animals and holds great promise for the possibility of directly correcting genetic defec...

Rapid whole-genome based typing and surveillance of avipoxviruses using nanopore sequencing.

Avian pox is an infectious disease caused by avipoxviruses (APV), resulting in cutaneous and/or tracheal lesions. Poxviruses share large genome sizes (from 130 to 360 kb), featuring repetitions, deletions or insertions as a result of a long-term recombination history. The increasing performances of next-generation sequencing (NGS) opened new opportunities for surveillance of poxviruses, based on timely and affordable workflows. We investigated the application of the 3 generation Oxford Nanopore Minion tec...

IDP-denovo: de novo transcriptome assembly and isoform annotation by hybrid sequencing.

In the past years, the long read (LR) sequencing technologies, such as Pacific Biosciences and Oxford Nanopore Technologies, have been demonstrated to substantially improve the quality of genome assembly and transcriptome characterization. Compared to the high cost of genome assembly by LR sequencing, it is more affordable to generate LRs for transcriptome characterization. That is, when informative transcriptome LR data are available without a high-quality genome, a method for de novo transcriptome assembl...

The use of whole genome sequencing in the investigation of a nosocomial influenza virus outbreak.

Traditional epidemiological investigation of nosocomial transmission of influenza involves the identification of patients who have the same influenza virus type and who have overlapped in time and place. This method may miss-identify transmission where it has not occurred or miss transmission when it has. We applied influenza virus whole genome sequencing (WGS) to an outbreak of influenza A in a haematology/oncology ward and identified two separate introductions; one which resulted in 5 additional infection...

First case of sexual transmitted asymptomatic female genital tuberculosis from spousal epididymal tuberculosis diagnosed by active screening.

Tuberculosis screening was performed for a healthy asymptomatic woman to determine whether she had been infected with active genital tuberculosis via sexual intercourse with her husband who had epididymal tuberculosis. Vaginal swab culture yielded Mycobacterium tuberculosis. Furthermore, whole genome sequencing revealed that the two causative isolates were genetically identical. To the best of our knowledge, this is the first report on sexual transmission of genital tuberculosis from a man to an asymptomati...


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