Search results for "Sequencing"
showing 10 items of 1087 documents
DNA Multi-Marker Genotyping and CIAS Morphometric Phenotyping of Fasciola gigantica-Sized Flukes from Ecuador, with an Analysis of the Radix Absence …
2021
Simple Summary Fasciolid flukes collected from sheep and cattle in Ecuador showed a high diversity in DNA sequences whose analyses indicated introductions from South America, European and North American countries. These results agree with the numerous livestock importations performed by Ecuador. Abnormally big-sized liver flukes were found in Ecuadorian sheep. The morphometric phenotypic CIAS study showed that its size maximum and mean very pronouncedly and significantly surpassed those of the Fasciola hepatica populations from South America and Spain and proved to be intermediate between standard F. hepatica and F. gigantica populations. Such a feature is only known in intermediate fasciol…
Isolation and Characterization of Two Klebsiella pneumoniae Phages Encoding Divergent Depolymerases
2020
The emergence of multidrug-resistant bacteria is a major global health concern. The search for new therapies has brought bacteriophages into the spotlight, and new phages are being described as possible therapeutic agents. Among the bacteria that are most extensively resistant to current antibiotics is Klebsiella pneumoniae, whose hypervariable extracellular capsule makes treatment particularly difficult. Here, we describe two new K. pneumoniae phages, &pi
Identification of DNA sequences specific for Vibrio vulnificus biotype 2 strains by suppression subtractive hybridization.
2005
ABSTRACT Vibrio vulnificus can be divided into three biotypes, and only biotype 2, which is further divided into serovars, contains eel-virulent strains. We compared the genomic DNA of a biotype 2 serovar E isolate (tester) with the genomic DNAs of three biotype 1 strains by suppression subtractive hybridization and then tested the distribution of the tester-specific DNA sequences in a wide collection of bacterial strains. In this way we identified three plasmid-borne DNA sequences that were specific for biotype 2 strains irrespective of the serovar and three chromosomal DNA sequences that were specific for serovar E biotype 2 strains. These sequences have potential for use in the diagnosis…
Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene S…
2001
Comparative genomics is a superior way to identify phylogenetically conserved features like genes or regions involved in gene regulation. The comparison of extended orthologous chromosomal regions should also reveal other characteristic traits essential for chromosome or gene function. In the present study we have sequenced and compared a region of conserved synteny from human chromosome 11p15.3 and mouse chromosome 7. In human, this region is known to contain several genes involved in the development of various disorders like Beckwith-Wiedemann overgrowth syndrome and other tumor diseases. Furthermore, in the neighboring chromosome region 11p15.5 extensive imprinting of genes has been repo…
Analysis of DNA sequence variation within marine species using Beta-coalescents
2013
We apply recently developed inference methods based on general coalescent processes to DNA sequence data obtained from various marine species. Several of these species are believed to exhibit so-called shallow gene genealogies, potentially due to extreme reproductive behaviour, e.g. via Hedgecock's "reproduction sweepstakes". Besides the data analysis, in particular the inference of mutation rates and the estimation of the (real) time to the most recent common ancestor, we briefly address the question whether the genealogies might be adequately described by so-called Beta coalescents (as opposed to Kingman's coalescent), allowing multiple mergers of genealogies. The choice of the underlying…
Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis
2016
Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencing approach on panels of targeted genes has turned out to be particularly useful in analyzing diseases characterized by significant genetic and phenotypic heterogeneity. We developed a panel of 26 genes to be screened with the Ion Personal Genome Machine (PGM) for causative mutations relating to ichthyosis. Sequencing runs were obtained from a patient with ichthyosis using the Ion Torrent PGM and then processed with Ion Torrent Suite, Variant Caller, Coverage Analysis and wANNOVER tools. No causative mutations were found using Variant Caller and wANNOVER softwares, whereas the “Coverage Analysis” t…
Comparison of different predictive models for nutrient estimation in a sequencing batch reactor for wastewater treatment
2006
Abstract In this paper different predictive models for nutrient estimation in a sequencing batch reactor (SBR) for wastewater treatment are compared: principal component regression (PCR), partial least squares (PLS), and artificial neural networks (ANNs). Two unfolding procedures were used: batch-wise and variable-wise. For the latter unfolding method, X and Y matrix augmentation with lagged variables were used in some models to incorporate process dynamics. The results have shown that batch-wise unfolding PLS models outperform the other approaches. The ANN models are good predictive models, but in this particular case-study, they do not outperform those multivariate projection models that …
Multivariate SPC of a sequencing batch reactor for wastewater treatment
2007
Data from a sequencing batch reactor (SBR) operated for enhanced biological phosphorus removal from wastewater have been analysed in order to propose an efficient MSPC scheme of the process. Different multivariate bilinear approaches have been applied and compared in terms of their capabilities for on-line and off-line fault detection and diagnosis. The typical three-way data structure from a batch process was unfolded batch-wise and variable-wise. In the latter case, two models were built: with (AT) and without (WKFH) removing the main non-linear behaviour of the process data. Since the process consists of several stages, the monitoring strategies tested include: one model for all stages a…
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
2022
Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…
P58 Differential molecular diagnosis of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing
2019
Introduction/Background Nowadays, the absence of standardized criteria to identify and differentiate uterine leiomyomas (LM) and leiomyosarcomas (LMS) prior to surgery, cause a significant stress in the patient, leading to unnecessary invasive procedures and additional costs to the National Health System. As consequence, the development of an accurate and non-invasive differential diagnostic methods in patients with surgical indication is needed to avoid the potential dissemination of hidden LMS from morcellation. We aim to identify differential genetic targets in LMS vs LM using Next Generation Sequencing to advance our knowledge in their differential diagnosis. Methodology A total of 13 L…