Search results for "genomic"
showing 10 items of 1737 documents
Confidence-based Somatic Mutation Evaluation and Prioritization
2012
Next generation sequencing (NGS) has enabled high throughput discovery of somatic mutations. Detection depends on experimental design, lab platforms, parameters and analysis algorithms. However, NGS-based somatic mutation detection is prone to erroneous calls, with reported validation rates near 54% and congruence between algorithms less than 50%. Here, we developed an algorithm to assign a single statistic, a false discovery rate (FDR), to each somatic mutation identified by NGS. This FDR confidence value accurately discriminates true mutations from erroneous calls. Using sequencing data generated from triplicate exome profiling of C57BL/6 mice and B16-F10 melanoma cells, we used the exist…
General Principles for the Detection of Modified Nucleotides in RNA by Specific Reagents.
2021
Epitranscriptomics heavily rely on chemical reagents for the detection, quantification, and localization of modified nucleotides in transcriptomes. Recent years have seen a surge in mapping methods that use innovative and rediscovered organic chemistry in high throughput approaches. While this has brought about a leap of progress in this young field, it has also become clear that the different chemistries feature variegated specificity and selectivity. The associated error rates, e.g., in terms of false positives and false negatives, are in large part inherent to the chemistry employed. This means that even assuming technically perfect execution, the interpretation of mapping results issuin…
Interactions between dietary n-3 fatty acids and genetic variants and risk of disease
2012
Nutritional genomics has undergone rapid development and the concept is now very popular with the general public. Therefore, there is increasing demand for knowledge on adapting dietary composition to the genome. Our aim has been to undertake a systematic review so as to find out the level of evidence existing on whether the effects of n-3 fatty acids on health can be modulated by genetic variation. A systematic literature search was conducted on studies that jointly analyse the effect of one or more genetic variants in candidate genes and n-3 fatty acids. Both observational and experimental studies were included. Results are classified in accordance with whether the study was undertaken on…
A multi-layer method to study genome-scale positions of nucleosomes
2009
AbstractThe basic unit of eukaryotic chromatin is the nucleosome, consisting of about 150 bp of DNA wrapped around a protein core made of histone proteins. Nucleosomes position is modulated in vivo to regulate fundamental nuclear processes. To measure nucleosome positions on a genomic scale both theoretical and experimental approaches have been recently reported. We have developed a new method, Multi-Layer Model (MLM), for the analysis of nucleosome position data obtained with microarray-based approach. The MLM is a feature extraction method in which the input data is processed by a classifier to distinguish between several kinds of patterns. We applied our method to simulated-synthetic and…
Caratterizzazione di Rhynchophorous ferrugineus (Coleoptera: Curculionidae) mediante l’analisi del DNA genomico
2010
Originario dell’Asia tropicale, Rhynchophorus ferrugineus (Olivier), Coleoptera, Curculionidae, introdotto accidentalmente nel bacino del Mediterraneo nei primi anni ’90 (Salama et al, 2004), e segnalato in Sicilia nel 2005 (A.A.V.V. , 2009) è il fitofago chiave causa della moria di numerose palme. Infesta diversi generi di palme, sia giovani che adulti, quali Phoenix canariensis, P. dactylifera, Coccus nucifera, Washingtonia sp. A dispetto della pericolosità di questa specie che recentemente è stata proposta quale specie da quarantena (EPPO, 2008) non sono ancora disponibili informazioni inerenti la caratterizzazione molecolare di R. ferrugineus, utili per: i) identificazione specifica del…
A genome‐wide comparison between selected and unselected Valle del Belice sheep reveals differences in population structure and footprints of recent …
2023
About three decades of breeding and selection in the Valle del Belìce sheep are expected to have left several genomic footprints related to milk production traits. In this study, we have assembled a dataset with 451 individuals of the Valle del Belìce sheep breed: 184 animals that underwent directional selection for milk production and 267 unselected animals, genotyped for 40,660 single-nucleotide polymorphisms (SNPs). Three different statistical approaches, both within (iHS and ROH) and between (Rsb) groups, were used to identify genomic regions potentially under selection. Population structure analyses separated all individuals according to their belonging to the two groups. A total of fo…
The Epistemics of “Personalized Medicine”. Rebranding Pharmacogenetics
2015
Whereas chapter 4 focuses on uses and normative claims of the rhetorical frame “Personalized Medicine” in medical and popular writings, chapter 5 analyzes the intellectual formation of pharmacogenetic, -genomics as a disciplinary field. It explores when, how, and why the leading journals in the field present themselves as part of the overall phenomenon labelled “Personalized Medicine”. Pharmacogenetic journals founded at the beginning of the twenty-first century, not only adopted the rhetorical framing of PM, but also branded pharmacogenomics as a milestone in medical history. Their vision extended to a large societal context that included not only pharmacology and genetics, but also broad …
Insects’ potential: Understanding the functional role of their gut microbiome
2021
The study of insect-associated microbial communities is a field of great importance in agriculture, principally because of the role insects play as pests. In addition, there is a recent focus on the potential of the insect gut microbiome in areas such as biotechnology, given some microorganisms produce molecules with biotechnological and industrial applications, and also in biomedicine, since some bacteria and fungi are a reservoir of antibiotic resistance genes (ARGs). To date, most studies aiming to characterize the role of the gut microbiome of insects have been based on high-throughput sequencing of the 16S rRNA gene and/or metagenomics. However, recently functional approaches such as m…
Benchmark of thirteen bioinformatic pipelines for metagenomic virus diagnostics using datasets from clinical samples
2021
AbstractMetagenomic sequencing is increasingly being used in clinical settings for difficult to diagnose cases. The performance of viral metagenomic protocols relies to a large extent on the bioinformatic analysis. In this study, the European Society for Clinical Virology (ESCV) Network on NGS (ENNGS) initiated a benchmark of metagenomic pipelines currently used in clinical virological laboratories.MethodsMetagenomic datasets from 13 clinical samples from patients with encephalitis or viral respiratory infections characterized by PCR were selected. The datasets were analysed with 13 different pipelines currently used in virological diagnostic laboratories of participating ENNGS members. The…
Paradigm of tunable clustering using Binarization of Consensus Partition Matrices (Bi-CoPaM) for gene discovery
2013
Copyright @ 2013 Abu-Jamous et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Clustering analysis has a growing role in the study of co-expressed genes for gene discovery. Conventional binary and fuzzy clustering do not embrace the biological reality that some genes may be irrelevant for a problem and not be assigned to a cluster, while other genes may participate in several biological functions and should simultaneously belong to multiple clusters. Also, these algorithms cannot generate tight cluster…