Search results for "Sequencing"
showing 10 items of 1087 documents
Molecular evolution and complete genome sequences in forensic analysis: Neisseria gonorrhoeae in a transmission case
2019
Molecular epidemiology and phylogenetic analyses are frequently used in the investigation of viral transmission cases in forensic contexts. Here, we present the methods and results of the analysis of a bacterial transmission in an alleged child abuse case using complete genome sequences obtained by high-throughput sequencing (HTS) methods.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
2021
Abstract Purpose Chromatinopathies include more than 50 disorders caused by disease-causing variants of various components of chromatin structure and function. Many of these disorders exhibit unique genome-wide DNA methylation profiles, known as episignatures. In this study, the methylation profile of a large cohort of individuals with chromatinopathies was analyzed for episignature detection. Methods DNA methylation data was generated on extracted blood samples from 129 affected individuals with the Illumina Infinium EPIC arrays and analyzed using an established bioinformatic pipeline. Results The DNA methylation profiles matched and confirmed the sequence findings in both the discovery an…
Evaluation of dynamic microbial communities in a styrene-degrading biotrickling filter using 16S rDNA tag pyrosequencing and denaturing gradient gel …
2014
Accurately characterizing microbial communities within bioreactors undergoing dynamic operating conditions is an essential first step towards understanding the relationship between microbial community structure and bioreactor performance. A detailed assessment of the changes in microbial populations within a styrene-degrading biotrickling filter was carried out using samples collected at multiple time points ranging from 21 to 155 days of biotrickling filter operation. Examination of microbial populations was conducted by 16S rDNA tag pyrosequencing and denaturing gradient gel electrophoresis (DGGE). Validation of pyrosequencing results was performed by quantitative polymerase chain reactio…
Aerobic granular sludge treating shipboard slop: Analysis of total petroleum hydrocarbons loading rates on performances and stability
2018
Abstract The work focuses on the feasibility of treating slop with aerobic granular sludge. For this purpose, a 3.5 L granular sequencing batch reactor was activated and it was monitored for 156 days. The experimental campaign was divided into two periods, named Period I (100 days) and Period II (56 days). Total Petroleum Hydrocarbon (TPH) concentration in the slop was, on average, equal to 6.8 ± 1.5 mg L−1 and 13 ± 1.5 mg L−1 in Period I and Period II respectively. The obtained results during the first experimental period indicated that about 80 days were required to reach steady state with mature granules, when TPHs removal efficiency was approximately 90%. The results indicated that both…
Insights into the annotated genome sequence of Methanoculleus bourgensis MS2(T), related to dominant methanogens in biogas-producing plants
2014
The final step of the biogas production process, the methanogenesis, is frequently dominated by members of the genus Methanoculleus. In particular, the species Methanoculleus bourgensis was identified to play a role in different biogas reactor systems. The genome of the type strain M. bourgensis MS2(T), originally isolated from a sewage sludge digestor, was completely sequenced to analyze putative adaptive genome features conferring competitiveness within biogas reactor environments to the strain. Sequencing and assembly of the M. bourgensis MS2(T) genome yielded a chromosome with a size of 2,789,773 bp. Comparative analysis of M. bourgensis MS2(T) and Methanoculleus marisnigri JR1 revealed…
Liquid Biopsy in Diagnosis and Prognosis of High-Grade Gliomas; State-of-the-Art and Literature Review
2022
Gliomas, particularly high-grade gliomas, represent the most common and aggressive tumors of the CNS and are still burdened by high mortality and a very poor prognosis, regardless of the type of therapy. Their diagnosis and monitoring rely on imaging techniques and direct biopsy of the pathological tissue; however, both procedures have inherent limitations. To address these limitations, liquid biopsies have been proposed in this field. They could represent an innovative tool that could help clinicians in the early diagnosis, monitoring, and prognosis of these tumors. Furthermore, the rapid development of next-generation sequencing (NGS) technologies has led to a significant reduction in seq…
Transcriptome profiling of citrus fruit response to huanglongbing disease.
2010
Huanglongbing (HLB) or "citrus greening" is the most destructive citrus disease worldwide. In this work, we studied host responses of citrus to infection with Candidatus Liberibacter asiaticus (CaLas) using next-generation sequencing technologies. A deep mRNA profile was obtained from peel of healthy and HLB- affected fruit. It was followed by pathway and protein-protein network analysis and quantitative real time PCR analysis of highly regulated genes. We identified differentially regulated pathways and constructed networks that provide a deep insight into the metabolism of affected fruit. Data mining revealed that HLB enhanced transcription of genes involved in the light reactions of phot…
Snapshot liver transcriptome in hepatocellular carcinoma
2012
Lately, advances in high throughput technologies in biomedical research have led to a dramatic increase in the accessibility of molecular insights at different levels of cancer biology such as genome, epigenome, transcriptome, proteome, and others. Among the diverse biological layers, the transcriptome has been most extensively studied especially due to the successful and broad introduction of the microarray technology. The future prospect of broad disposability of deep sequencing technology will furthermore lead to a more sensitive detection of lowly expressed transcripts and to an increase in the number of newly identified transcripts, but also to increase the discovery and characterizati…
JANE: efficient mapping of prokaryotic ESTs and variable length sequence reads on related template genomes
2009
Abstract Background ESTs or variable sequence reads can be available in prokaryotic studies well before a complete genome is known. Use cases include (i) transcriptome studies or (ii) single cell sequencing of bacteria. Without suitable software their further analysis and mapping would have to await finalization of the corresponding genome. Results The tool JANE rapidly maps ESTs or variable sequence reads in prokaryotic sequencing and transcriptome efforts to related template genomes. It provides an easy-to-use graphics interface for information retrieval and a toolkit for EST or nucleotide sequence function prediction. Furthermore, we developed for rapid mapping an enhanced sequence align…
Parallelizing Epistasis Detection in GWAS on FPGA and GPU-Accelerated Computing Systems
2015
This is a post-peer-review, pre-copyedit version of an article published in IEEE - ACM Transactions on Computational Biology and Bioinformatics. The final authenticated version is available online at: http://dx.doi.org/10.1109/TCBB.2015.2389958 [Abstract] High-throughput genotyping technologies (such as SNP-arrays) allow the rapid collection of up to a few million genetic markers of an individual. Detecting epistasis (based on 2-SNP interactions) in Genome-Wide Association Studies is an important but time consuming operation since statistical computations have to be performed for each pair of measured markers. Computational methods to detect epistasis therefore suffer from prohibitively lon…