Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data

BACKGROUND: Genome imputation, admixture resolution and genome-wide association analyses are timely and computationally intensive processes with many composite and requisite steps. Analysis time increases further when building and installing the run programs required for these analyses. For scientists that may not be as versed in programing language, but want to perform these operations hands on, there is a lengthy learning curve to utilize the vast number of programs available for these analyses. RESULTS: In an effort to streamline the entire process with easy-to-use steps for scientists working with big data, the Odyssey pipeline was developed. Odyssey is a simplified, efficient, semi-automated genome-wide imputation and analysis pipeline, which prepares raw genetic data, performs pre-imputation quality control, phasing, imputation, post-imputation quality control, population stratification analysis, and genome-wide association with statistical data analysis, including result visualization. Odyssey is a pipeline that integrates programs such as PLINK, SHAPEIT, Eagle, IMPUTE, Minimac, and several R packages, to create a seamless, easy-to-use, and modular workflow controlled via a single user-friendly configuration file. Odyssey was built with compatibility in mind, and thus utilizes the Singularity container solution, which can be run on Linux, MacOS, and Windows platforms. It is also easily scalable from a simple desktop to a High-Performance System (HPS). CONCLUSION: Odyssey facilitates efficient and fast genome-wide association analysis automation and can go from raw genetic data to genome: phenome association visualization and analyses results in 3-8 h on average, depending on the input data, choice of programs within the pipeline and available computer resources. Odyssey was built to be flexible, portable, compatible, scalable, and easy to setup. Biologists less familiar with programing can now work hands on with their own big data using this easy-to-use pipeline

Inviwo -- A Visualization System with Usage Abstraction Levels

The complexity of today's visualization applications demands specific visualization systems tailored for the development of these applications. Frequently, such systems utilize levels of abstraction to improve the application development process, for instance by providing a data flow network editor. Unfortunately, these abstractions result in several issues, which need to be circumvented through an abstraction-centered system design. Often, a high level of abstraction hides low level details, which makes it difficult to directly access the underlying computing platform, which would be important to achieve an optimal performance. Therefore, we propose a layer structure developed for modern and sustainable visualization systems allowing developers to interact with all contained abstraction levels. We refer to this interaction capabilities as usage abstraction levels, since we target application developers with various levels of experience. We formulate the requirements for such a system, derive the desired architecture, and present how the concepts have been exemplary realized within the Inviwo visualization system. Furthermore, we address several specific challenges that arise during the realization of such a layered architecture, such as communication between different computing platforms, performance centered encapsulation, as well as layer-independent development by supporting cross layer documentation and debugging capabilities

RACS: Rapid Analysis of ChIP-Seq data for contig based genomes

Background: Chromatin immunoprecipitation coupled to next generation sequencing (ChIP-Seq) is a widely used technique to investigate the function of chromatin-related proteins in a genome-wide manner. ChIP-Seq generates large quantities of data which can be difficult to process and analyse, particularly for organisms with contig based genomes. Contig-based genomes often have poor annotations for cis-elements, for example enhancers, that are important for gene expression. Poorly annotated genomes make a comprehensive analysis of ChIP-Seq data difficult and as such standardized analysis pipelines are lacking. Methods: We report a computational pipeline that utilizes traditional High-Performance Computing techniques and open source tools for processing and analysing data obtained from ChIP-Seq. We applied our computational pipeline "Rapid Analysis of ChIP-Seq data" (RACS) to ChIP-Seq data that was generated in the model organism Tetrahymena thermophila, an example of an organism with a genome that is available in contigs. Results: To test the performance and efficiency of RACs, we performed control ChIP-Seq experiments allowing us to rapidly eliminate false positives when analyzing our previously published data set. Our pipeline segregates the found read accumulations between genic and intergenic regions and is highly efficient for rapid downstream analyses. Conclusions: Altogether, the computational pipeline presented in this report is an efficient and highly reliable tool to analyze genome-wide ChIP-Seq data generated in model organisms with contig-based genomes. RACS is an open source computational pipeline available to download from: https://bitbucket.org/mjponce/racs --or-- https://gitrepos.scinet.utoronto.ca/public/?a=summary&p=RACSComment: Submitted to BMC Bioinformatics. Computational pipeline available at https://bitbucket.org/mjponce/rac

Analyzing Visual Mappings of Traditional and Alternative Music Notation

In this paper, we postulate that combining the domains of information visualization and music studies paves the ground for a more structured analysis of the design space of music notation, enabling the creation of alternative music notations that are tailored to different users and their tasks. Hence, we discuss the instantiation of a design and visualization pipeline for music notation that follows a structured approach, based on the fundamental concepts of information and data visualization. This enables practitioners and researchers of digital humanities and information visualization, alike, to conceptualize, create, and analyze novel music notation methods. Based on the analysis of relevant stakeholders and their usage of music notation as a mean of communication, we identify a set of relevant features typically encoded in different annotations and encodings, as used by interpreters, performers, and readers of music. We analyze the visual mappings of musical dimensions for varying notation methods to highlight gaps and frequent usages of encodings, visual channels, and Gestalt laws. This detailed analysis leads us to the conclusion that such an under-researched area in information visualization holds the potential for fundamental research. This paper discusses possible research opportunities, open challenges, and arguments that can be pursued in the process of analyzing, improving, or rethinking existing music notation systems and techniques.Comment: 5 pages including references, 3rd Workshop on Visualization for the Digital Humanities, Vis4DH, IEEE Vis 201

Hardware-accelerated interactive data visualization for neuroscience in Python.

Large datasets are becoming more and more common in science, particularly in neuroscience where experimental techniques are rapidly evolving. Obtaining interpretable results from raw data can sometimes be done automatically; however, there are numerous situations where there is a need, at all processing stages, to visualize the data in an interactive way. This enables the scientist to gain intuition, discover unexpected patterns, and find guidance about subsequent analysis steps. Existing visualization tools mostly focus on static publication-quality figures and do not support interactive visualization of large datasets. While working on Python software for visualization of neurophysiological data, we developed techniques to leverage the computational power of modern graphics cards for high-performance interactive data visualization. We were able to achieve very high performance despite the interpreted and dynamic nature of Python, by using state-of-the-art, fast libraries such as NumPy, PyOpenGL, and PyTables. We present applications of these methods to visualization of neurophysiological data. We believe our tools will be useful in a broad range of domains, in neuroscience and beyond, where there is an increasing need for scalable and fast interactive visualization