Detecting dispersed duplications in high-throughput sequencing data using a database-free approach.

MOTIVATION: Dispersed duplications (DDs) such as transposon element insertions and copy number variations are ubiquitous in the human genome. They have attracted the interest of biologists as well as medical researchers due to their role in both evolution and disease. The efforts of discovering DDs in high-throughput sequencing data are currently dominated by database-oriented approaches that require pre-existing knowledge of the DD elements to be detected. RESULTS: We present DD_DETECTION, a database-free approach to finding DD events in high-throughput sequencing data. DD_DETECTION is able to detect DDs purely from paired-end read alignments. We show in a comparative study that this method is able to compete with database-oriented approaches in recovering validated transposon insertion events. We also experimentally validate the predictions of DD_DETECTION on a human DNA sample, showing that it can find not only duplicated elements present in common databases but also DDs of novel type. AVAILABILITY AND IMPLEMENTATION: The software presented in this article is open source and available from https://bitbucket.org/mkroon/dd_detection.

Pharmacometrics Markup Language (PharmML): Opening New Perspectives for Model Exchange in Drug Development.

The lack of a common exchange format for mathematical models in pharmacometrics has been a long-standing problem. Such a format has the potential to increase productivity and analysis quality, simplify the handling of complex workflows, ensure reproducibility of research, and facilitate the reuse of existing model resources. Pharmacometrics Markup Language (PharmML), currently under development by the Drug Disease Model Resources (DDMoRe) consortium, is intended to become an exchange standard in pharmacometrics by providing means to encode models, trial designs, and modeling steps.

Unsupervised clustering with spiking neurons by sparse temporal coding and multilayer RBF networks.

We demonstrate that spiking neural networks encoding information in the timing of single spikes are capable of computing and learning clusters from realistic data. We show how a spiking neural network based on spike-time coding and Hebbian learning can successfully perform unsupervised clustering on real-world data, and we demonstrate how temporal synchrony in a multilayer network can induce hierarchical clustering. We develop a temporal encoding of continuously valued data to obtain adjustable clustering capacity and precision with an efficient use of neurons: input variables are encoded in a population code by neurons with graded and overlapping sensitivity profiles. We also discuss methods for enhancing scale-sensitivity of the network and show how the induced synchronization of neurons within early RBF layers allows for the subsequent detection of complex clusters.

Motion planning with complete knowledge using a colored SOM.

The motion planning problem requires that a collision-free path be determined for a robot moving amidst a fixed set of obstacles. Most neural network approaches to this problem are for the situation in which only local knowledge about the configuration space is available. The main goal of the paper is to show that neural networks are also suitable tools in situations with complete knowledge of the configuration space. In this paper we present an approach that combines a neural network and deterministic techniques. We define a colored version of Kohonen's self-organizing map that consists of two different classes of nodes. The network is presented with random configurations of the robot and, from this information, it constructs a road map of possible motions in the work space. The map is a growing network, and different nodes are used to approximate boundaries of obstacles and the Voronoi diagram of the obstacles, respectively. In a second phase, the positions of the two kinds of nodes are combined to obtain the road map. In this way a number of typical problems with small obstacles and passages are avoided, and the required number of nodes for a given accuracy is within reasonable limits. This road map is searched to find a motion connecting the given source and goal configurations of the robot. The algorithm is simple and general; the only specific computation that is required is a check for intersection of two polygons. We implemented the algorithm for planar robots allowing both translation and rotation and experiments show that compared to conventional techniques it performs well, even for difficult motion planning scenes.