Search results for "GENRE"

Reference genome assessment from a population scale perspective: an accurate profile of variability and noise.

2017

Abstract Motivation Current plant and animal genomic studies are often based on newly assembled genomes that have not been properly consolidated. In this scenario, misassembled regions can easily lead to false-positive findings. Despite quality control scores are included within genotyping protocols, they are usually employed to evaluate individual sample quality rather than reference sequence reliability. We propose a statistical model that combines quality control scores across samples in order to detect incongruent patterns at every genomic region. Our model is inherently robust since common artifact signals are expected to be shared between independent samples over misassembled regions …

dAPE: a web server to detect homorepeats and follow their evolution.

2016

Abstract Summary Homorepeats are low complexity regions consisting of repetitions of a single amino acid residue. There is no current consensus on the minimum number of residues needed to define a functional homorepeat, nor even if mismatches are allowed. Here we present dAPE, a web server that helps following the evolution of homorepeats based on orthology information, using a sensitive but tunable cutoff to help in the identification of emerging homorepeats. Availability and Implementation dAPE can be accessed from http://cbdm-01.zdv.uni-mainz.de/∼munoz/polyx. Supplementary information Supplementary data are available at Bioinformatics online.

MSAProbs-MPI: parallel multiple sequence aligner for distributed-memory systems

2016

This is a pre-copyedited, author-produced version of an article accepted for publication in Bioinformatics following peer review. The version of recordJorge González-Domínguez, Yongchao Liu, Juan Touriño, Bertil Schmidt; MSAProbs-MPI: parallel multiple sequence aligner for distributed-memory systems, Bioinformatics, Volume 32, Issue 24, 15 December 2016, Pages 3826–3828, https://doi.org/10.1093/bioinformatics/btw558is available online at: https://doi.org/10.1093/bioinformatics/btw558 [Abstracts] MSAProbs is a state-of-the-art protein multiple sequence alignment tool based on hidden Markov models. It can achieve high alignment accuracy at the expense of relatively long runtimes for large-sca…

bookdown: Authoring Books and Technical Documents with R Markdown

2018

Towards Self-explanatory Ontology Visualization with Contextual Verbalization

2016

Ontologies are one of the core foundations of the Semantic Web. To participate in Semantic Web projects, domain experts need to be able to understand the ontologies involved. Visual notations can provide an overview of the ontology and help users to understand the connections among entities. However, the users first need to learn the visual notation before they can interpret it correctly. Controlled natural language representation would be readable right away and might be preferred in case of complex axioms, however, the structure of the ontology would remain less apparent. We propose to combine ontology visualizations with contextual ontology verbalizations of selected ontology (diagram) e…

Ultra-Fast Detection of Higher-Order Epistatic Interactions on GPUs

2017

Detecting higher-order epistatic interactions in Genome-Wide Association Studies (GWAS) remains a challenging task in the fields of genetic epidemiology and computer science. A number of algorithms have recently been proposed for epistasis discovery. However, they suffer from a high computational cost since statistical measures have to be evaluated for each possible combination of markers. Hence, many algorithms use additional filtering stages discarding potentially non-interacting markers in order to reduce the overall number of combinations to be examined. Among others, Mutual Information Clustering (MIC) is a common pre-processing filter for grouping markers into partitions using K-Means…

piRNA cluster database: a web resource for piRNA producing loci

2015

Piwi proteins and their guiding small RNAs, termed Piwi-interacting (pi-) RNAs, are essential for silencing of transposons in the germline of animals. A substantial fraction of piRNAs originates from genomic loci termed piRNA clusters and sequences encoded in these piRNA clusters determine putative targets for the Piwi/piRNA system. In the past decade, studies of piRNA transcriptomes in different species revealed additional roles for piRNAs beyond transposon silencing, reflecting the astonishing plasticity of the Piwi/piRNA system along different phylogenetic branches. Moreover, piRNA transcriptomes can change drastically during development and vary across different tissues. Since piRNA clu…

VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy

2017

The possibility of integrating viral vectors to become a persistent part of the host genome makes them a crucial element of clinical gene therapy. However, viral integration has associated risks, such as the unintentional activation of oncogenes that can result in cancer. Therefore, the analysis of integration sites of retroviral vectors is a crucial step in developing safer vectors for therapeutic use. Here we present VISMapper, a vector integration site analysis web server, to analyze next-generation sequencing data for retroviral vector integration sites. VISMapper can be found at: http://vismapper.babelomics.org . Because it uses novel mapping algorithms VISMapper is remarkably faster t…

An Integrative Framework for the Construction of Big Functional Networks

2018

We present a methodology for biological data integration, aiming at building and analysing large functional networks which model complex genotype-phenotype associations. A functional network is a graph where nodes represent cellular components (e.g., genes, proteins, mRNA, etc.) and edges represent associations among such molecules. Different types of components may cohesist in the same network, and associations may be related to physical[biochemical interactions or functional/phenotipic relationships. Due to both the large amount of involved information and the computational complexity typical of the problems in this domain, the proposed framework is based on big data technologies (Spark a…

Decentralised trust-management inspired by ant pheromones

2017

Computational trust is increasingly utilised to select interaction partners in open technical systems consisting of heterogeneous, autonomous agents. Current approaches rely on centralised elements for managing trust ratings (i.e. control and provide access to aggregated ratings). Consider a grid computing application as illustrating example: agents share their computing resources and cooperate in terms of processing computing jobs. These agents are free to join and leave, and they decide on their own with whom to interact. The impact of malicious or uncooperative agents can be countered by only cooperating with agents that have shown to be benevolent: trust relationships are established. T…