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Genomics, Metadata, High-Throughput Nucleotide Sequencing, and Software

Next generation sequencing (NGS) technologies allow improved understanding of pathogens. In the upstream processing of generating genomic data, there is still a lack of process-oriented tools for managing corresponding meta data. In this paper, we provide a description of how a process-oriented software prototype was developed that allowed the capture and collation of metadata involved when doing NGS. Our question was: How to develop an interactive web application that supports the process-oriented management of genetic data independent of any sequencing technique?

Conservation of Natural Resources and Software

Algorithms, Education, Medical, Humans, Publications, Medical Oncology, Precision Medicine, and Software

Background: We describe a prototype implementation of a platform that could underlie a Precision Oncology Rapid Learning system.
Results: We describe the prototype platform, and examine some important issues and details. In the Appendix we provide a complete walk-through of the prototype platform.
Conclusions: The design choices made in this implementation rest upon ten constitutive hypotheses, which, taken together, define a particular view of how a rapid learning medical platform might be defined, organized, and implemented.

Base Sequence, Sequence Alignment, Computational Biology methods, Phylogeny, and Software

Background: Automated bioinformatics workflows are more robust, easier to maintain, and results more reproducible when built with command-line utilities than with custom-coded scripts. Command-line utilities further benefit by relieving bioinformatics developers to learn the use of, or to interact directly with, biological software libraries. There is however a lack of command-line utilities that leverage popular Open Source biological software toolkits such as BioPerl ( http://bioperl.org ) to make many of the well-designed, robust, and routinely used biological classes available for a wider base of end users.
Results: Designed as standard utilities for UNIX-family operating systems, BpWrapper makes functionality of some of the most popular BioPerl modules readily accessible on the command line to novice as well as to experienced bioinformatics practitioners. The initial release of BpWrapper includes four utilities with concise command-line user interfaces, bioseq, bioaln, biotree, and biopop, specialized for manipulation of molecular sequences, sequence alignments, phylogenetic trees, and DNA polymorphisms, respectively. Over a hundred methods are currently available as command-line options and new methods are easily incorporated. Performance of BpWrapper utilities lags that of precompiled utilities while equivalent to that of other utilities based on BioPerl. BpWrapper has been tested on BioPerl Release 1.6, Perl versions 5.10.1 to 5.25.10, and operating systems including Apple macOS, Microsoft Windows, and GNU/Linux. Release code is available from the Comprehensive Perl Archive Network (CPAN) at https://metacpan.org/pod/Bio::BPWrapper . Source code is available on GitHub at https://github.com/bioperl/p5-bpwrapper .
Conclusions: BpWrapper improves on existing sequence utilities by following the design principles of Unix text utilities such including a concise user interface, extensive command-line options, and standard input/output for serialized operations. Further, dozens of novel methods for manipulation of sequences, alignments, and phylogenetic trees, unavailable in existing utilities (e.g., EMBOSS, Newick Utilities, and FAST), are provided. Bioinformaticians should find BpWrapper useful for rapid prototyping of workflows on the command-line without creating custom scripts for comparative genomics and other bioinformatics applications.

Equipment Design, Pilot Projects, Image Interpretation, Computer-Assisted instrumentation, Image Interpretation, Computer-Assisted methods, Magnetic Resonance Imaging instrumentation, Magnetic Resonance Imaging methods, Signal Processing, Computer-Assisted instrumentation, and Software

Purpose: Implementing new magnetic resonance experiments, or sequences, often involves extensive programming on vendor-specific platforms, which can be time consuming and costly. This situation is exacerbated when research sequences need to be implemented on several platforms simultaneously, for example, at different field strengths. This work presents an alternative programming environment that is hardware-independent, open-source, and promotes rapid sequence prototyping.
Methods: A novel file format is described to efficiently store the hardware events and timing information required for an MR pulse sequence. Platform-dependent interpreter modules convert the file to appropriate instructions to run the sequence on MR hardware. Sequences can be designed in high-level languages, such as MATLAB, or with a graphical interface. Spin physics simulation tools are incorporated into the framework, allowing for comparison between real and virtual experiments.
Results: Minimal effort is required to implement relatively advanced sequences using the tools provided. Sequences are executed on three different MR platforms, demonstrating the flexibility of the approach.
Conclusion: A high-level, flexible and hardware-independent approach to sequence programming is ideal for the rapid development of new sequences. The framework is currently not suitable for large patient studies or routine scanning although this would be possible with deeper integration into existing workflows. Magn Reson Med 77:1544-1552, 2017. © 2016 International Society for Magnetic Resonance in Medicine.
(© 2016 International Society for Magnetic Resonance in Medicine.)

Emergency Service, Hospital, Feedback, Humans, Poison Control Centers, Time Factors, Health Information Exchange, and Software

Background: Health information exchange (HIE) between Poison Control Centers (PCCs) and Emergency Departments (EDs) could improve care of poisoned patients. However, PCC information systems are not designed to facilitate HIE with EDs; therefore, we are developing specialized software to support HIE within the normal workflow of the PCC using user-centered design and rapid prototyping.
Objective: To describe the design of an HIE dashboard and the refinement of user requirements through rapid prototyping.
Methods: Using previously elicited user requirements, we designed low-fidelity sketches of designs on paper with iterative refinement. Next, we designed an interactive high-fidelity prototype and conducted scenario-based usability tests with end users. Users were asked to think aloud while accomplishing tasks related to a case vignette. After testing, the users provided feedback and evaluated the prototype using the System Usability Scale (SUS).
Results: Survey results from three users provided useful feedback that was then incorporated into the design. After achieving a stable design, we used the prototype itself as the specification for development of the actual software. Benefits of prototyping included having 1) subject-matter experts heavily involved with the design; 2) flexibility to make rapid changes, 3) the ability to minimize software development efforts early in the design stage; 4) rapid finalization of requirements; 5) early visualization of designs; 6) and a powerful vehicle for communication of the design to the programmers. Challenges included 1) time and effort to develop the prototypes and case scenarios; 2) no simulation of system performance; 3) not having all proposed functionality available in the final product; and 4) missing needed data elements in the PCC information system.

Computer Simulation, Humans, Image Enhancement methods, Image Interpretation, Computer-Assisted methods, Pilot Projects, Reproducibility of Results, Sensitivity and Specificity, Algorithms, Computer Graphics, Imaging, Three-Dimensional methods, Models, Biological, Software, and Whole Body Imaging methods

We present ADAPT, a flexible platform for designing and authoring functional, purposeful human characters in a rich virtual environment. Our framework incorporates character animation, navigation, and behavior with modular interchangeable components to produce narrative scenes. The animation system provides locomotion, reaching, gaze tracking, gesturing, sitting, and reactions to external physical forces, and can easily be extended with more functionality due to a decoupled, modular structure. The navigation component allows characters to maneuver through a complex environment with predictive steering for dynamic obstacle avoidance. Finally, our behavior framework allows a user to fully leverage a character's animation and navigation capabilities when authoring both individual decision-making and complex interactions between actors using a centralized, event-driven model.

Epigenomics methods, High-Throughput Nucleotide Sequencing, and Software

Motivation: The development of computational tools to enable testing and analysis of high-throughput-sequencing data is essential to modern genomics research. However, although multiple frameworks have been developed to facilitate access to these tools, comparatively little effort has been made at implementing low-level programming libraries to increase the speed and ease of their development.
Results: We propose NGS++, a programming library in C++11 specialized in manipulating both next-generation sequencing (NGS) datasets and genomic information files. This library allows easy integration of new formats and rapid prototyping of new functionalities with a focus on the analysis of genomic regions and features. It offers a powerful, yet versatile and easily extensible interface to read, write and manipulate multiple genomic file formats. By standardizing the internal data structures and presenting a common interface to the data parser, NGS++ offers an effective framework for epigenomics tool development.
Availability: NGS++ was written in C++ using the C++11 standard. It requires minimal efforts to build and is well-documented via a complete docXygen guide, online documentation and tutorials. Source code, tests, code examples and documentation are available via the website at http://www.ngsplusplus.ca and the github repository at https://github.com/NGS-lib/NGSplusplus.
Contact: nicolas.gevry@usherbrooke.ca or arnaud.droit@crchuq.ulaval.ca.

Chromatography, Liquid, Internet, Reproducibility of Results, Tandem Mass Spectrometry, Data Mining methods, Databases, Protein, Proteomics methods, and Software

Pyteomics is a cross-platform, open-source Python library providing a rich set of tools for MS-based proteomics. It provides modules for reading LC-MS/MS data, search engine output, protein sequence databases, theoretical prediction of retention times, electrochemical properties of polypeptides, mass and m/z calculations, and sequence parsing. Pyteomics is available under Apache license; release versions are available at the Python Package Index http://pypi.python.org/pyteomics, the source code repository at http://hg.theorchromo.ru/pyteomics, documentation at http://packages.python.org/pyteomics. Pyteomics.biolccc documentation is available at http://packages.python.org/pyteomics.biolccc/. Questions on installation and usage can be addressed to pyteomics mailing list: pyteomics@googlegroups.com.

Biomechanical Phenomena, Biopsy, Brachytherapy methods, Diagnosis, Computer-Assisted instrumentation, Diagnosis, Computer-Assisted methods, Endoscopy methods, Equipment Design, Female, Humans, Male, Programming Languages, Prostatic Neoplasms radiotherapy, Robotic Surgical Procedures, Robotics, User-Computer Interface, Video Recording, Signal Processing, Computer-Assisted, and Software

Computer Assisted Medical Intervention (CAMI hereafter) is a complex multi-disciplinary field. CAMI research requires the collaboration of experts in several fields as diverse as medicine, computer science, mathematics, instrumentation, signal processing, mechanics, modeling, automatics, optics, etc. CamiTK is a modular framework that helps researchers and clinicians to collaborate together in order to prototype CAMI applications by regrouping the knowledge and expertise from each discipline. It is an open-source, cross-platform generic and modular tool written in C++ which can handle medical images, surgical navigation, biomedicals simulations and robot control. This paper presents the Computer Assisted Medical Intervention ToolKit (CamiTK) and how it is used in various applications in our research team.

Databases, Genetic, Genomics, Information Systems, Internet, Phenotype, User-Computer Interface, Computational Biology methods, and Software

Background: There is a huge demand on bioinformaticians to provide their biologists with user friendly and scalable software infrastructures to capture, exchange, and exploit the unprecedented amounts of new *omics data. We here present MOLGENIS, a generic, open source, software toolkit to quickly produce the bespoke MOLecular GENetics Information Systems needed.
Methods: The MOLGENIS toolkit provides bioinformaticians with a simple language to model biological data structures and user interfaces. At the push of a button, MOLGENIS' generator suite automatically translates these models into a feature-rich, ready-to-use web application including database, user interfaces, exchange formats, and scriptable interfaces. Each generator is a template of SQL, JAVA, R, or HTML code that would require much effort to write by hand. This 'model-driven' method ensures reuse of best practices and improves quality because the modeling language and generators are shared between all MOLGENIS applications, so that errors are found quickly and improvements are shared easily by a re-generation. A plug-in mechanism ensures that both the generator suite and generated product can be customized just as much as hand-written software.
Results: In recent years we have successfully evaluated the MOLGENIS toolkit for the rapid prototyping of many types of biomedical applications, including next-generation sequencing, GWAS, QTL, proteomics and biobanking. Writing 500 lines of model XML typically replaces 15,000 lines of hand-written programming code, which allows for quick adaptation if the information system is not yet to the biologist's satisfaction. Each application generated with MOLGENIS comes with an optimized database back-end, user interfaces for biologists to manage and exploit their data, programming interfaces for bioinformaticians to script analysis tools in R, Java, SOAP, REST/JSON and RDF, a tab-delimited file format to ease upload and exchange of data, and detailed technical documentation. Existing databases can be quickly enhanced with MOLGENIS generated interfaces using the 'ExtractModel' procedure.
Conclusions: The MOLGENIS toolkit provides bioinformaticians with a simple model to quickly generate flexible web platforms for all possible genomic, molecular and phenotypic experiments with a richness of interfaces not provided by other tools. All the software and manuals are available free as LGPLv3 open source at http://www.molgenis.org.

Algorithms, Animals, Brain physiology, Humans, Systems Integration, User-Computer Interface, Brain anatomy histology, Brain Mapping, Image Processing, Computer-Assisted methods, Magnetic Resonance Imaging, Publishing statistics numerical data, and Software

Non-invasive neuroimaging techniques enable extraordinarily sensitive and specific in vivo study of the structure, functional response and connectivity of biological mechanisms. With these advanced methods comes a heavy reliance on computer-based processing, analysis and interpretation. While the neuroimaging community has produced many excellent academic and commercial tool packages, new tools are often required to interpret new modalities and paradigms. Developing custom tools and ensuring interoperability with existing tools is a significant hurdle. To address these limitations, we present a new framework for algorithm development that implicitly ensures tool interoperability, generates graphical user interfaces, provides advanced batch processing tools, and, most importantly, requires minimal additional programming or computational overhead. Java-based rapid prototyping with this system is an efficient and practical approach to evaluate new algorithms since the proposed system ensures that rapidly constructed prototypes are actually fully-functional processing modules with support for multiple GUI's, a broad range of file formats, and distributed computation. Herein, we demonstrate MRI image processing with the proposed system for cortical surface extraction in large cross-sectional cohorts, provide a system for fully automated diffusion tensor image analysis, and illustrate how the system can be used as a simulation framework for the development of a new image analysis method. The system is released as open source under the Lesser GNU Public License (LGPL) through the Neuroimaging Informatics Tools and Resources Clearinghouse (NITRC).

Animals, Automation, Decision Support Techniques, Efficiency, Humans, Information Management, Systems Integration, Biotechnology methods, Computational Biology, Drug Design, Software, and Technology, Pharmaceutical methods

The automation of drug discovery methods continues to develop, especially techniques that process information, represent workflow and facilitate decision-making. The magnitude of data and the plethora of questions in pharmaceutical and biotechnology research give rise to the need for rapid prototyping software. This review describes the advantages and disadvantages of three solutions: Competitive Workflow, Taverna and Pipeline Pilot. Each of these systems processes large amounts of data, integrates diverse systems and assists novice programmers and human experts in critical decision-making steps.

Humans, Models, Anatomic, Prosthesis Design instrumentation, Tomography, X-Ray Computed methods, Computer-Aided Design, Ear, External anatomy histology, Prosthesis Design methods, and Software

External ear defects can be corrected by surgery, but this may not be feasible for personal or medical reasons. Reconstructive solutions are a good alternative, but rely on the artistry and availability of the anaplastologist. A semi-automated methodology using computer-aided design (CAD) and rapid prototyping (RP) technologies was developed for auricular prosthesis development, and demonstrated in a real-life case. The correct geometry and position of the prosthesis were ensured by stacking the computed tomography scan images of the contralateral normal ear in reverse order, and joining them using a medical modelling software program. The CAD model of the remnant portion of the defective ear was subtracted from the model of the mirrored contralateral ear, using a haptic CAD system, to obtain the final geometry of the prosthesis. Polymer models were fabricated in RP systems, and used for making a corresponding mould. Medical grade silicone rubber of the appropriate colour was packed into the mould to fabricate the final ear prosthesis and fitted to the deficient side of the patient using medical grade adhesive. The computer-aided methodology gave a high level of accuracy in terms of shape, size and position of the prosthesis, and a significantly shorter lead time compared to the conventional (manual) technique.

Computer Simulation, Genome, Bacterial genetics, Pilot Projects, Protein Interaction Mapping methods, Chromosome Mapping methods, Escherichia coli physiology, Escherichia coli Proteins metabolism, Gene Expression Regulation physiology, Models, Biological, Signal Transduction physiology, and Software

Background: Successful realization of a "systems biology" approach to analyzing cells is a grand challenge for our understanding of life. However, current modeling approaches to cell simulation are labor-intensive, manual affairs, and therefore constitute a major bottleneck in the evolution of computational cell biology.
Results: We developed the Genome-based Modeling (GEM) System for the purpose of automatically prototyping simulation models of cell-wide metabolic pathways from genome sequences and other public biological information. Models generated by the GEM System include an entire Escherichia coli metabolism model comprising 968 reactions of 1195 metabolites, achieving 100% coverage when compared with the KEGG database, 92.38% with the EcoCyc database, and 95.06% with iJR904 genome-scale model.
Conclusion: The GEM System prototypes qualitative models to reduce the labor-intensive tasks required for systems biology research. Models of over 90 bacterial genomes are available at our web site.

DNA ultrastructure, Electrophoresis, Agar Gel, Microscopy, Electron, Transmission, Nanostructures ultrastructure, Nucleic Acid Conformation, DNA chemistry, Nanostructures chemistry, and Software

DNA nanotechnology exploits the programmable specificity afforded by base-pairing to produce self-assembling macromolecular objects of custom shape. For building megadalton-scale DNA nanostructures, a long 'scaffold' strand can be employed to template the assembly of hundreds of oligonucleotide 'staple' strands into a planar antiparallel array of cross-linked helices. We recently adapted this 'scaffolded DNA origami' method to producing 3D shapes formed as pleated layers of double helices constrained to a honeycomb lattice. However, completing the required design steps can be cumbersome and time-consuming. Here we present caDNAno, an open-source software package with a graphical user interface that aids in the design of DNA sequences for folding 3D honeycomb-pleated shapes A series of rectangular-block motifs were designed, assembled, and analyzed to identify a well-behaved motif that could serve as a building block for future studies. The use of caDNAno significantly reduces the effort required to design 3D DNA-origami structures. The software is available at http://cadnano.org/, along with example designs and video tutorials demonstrating their construction. The source code is released under the MIT license.

Equipment Design, Equipment Failure Analysis, Humans, Reproducibility of Results, Sensitivity and Specificity, Signal Processing, Computer-Assisted instrumentation, Software Design, Brain physiology, Brain Mapping instrumentation, Brain Mapping methods, Electroencephalography instrumentation, Electroencephalography methods, Software, and User-Computer Interface

This paper describes the control system of a next-generation optical brain-computer interface (BCI). Using functional near-infrared spectroscopy (fNIRS) as a BCI modality is a relatively new concept, and research has only begun to explore approaches for its implementation. It is necessary to have a system by which it is possible to investigate the signal processing and classification techniques available in the BCI community. Most importantly, these techniques must be easily testable in real-time applications. The system we describe was built using LABVIEW, a graphical programming language designed for interaction with National Instruments hardware. This platform allows complete configurability from hardware control and regulation, testing and filtering in a graphical interface environment.

Conserved Sequence, Phylogeny, Algorithms, Artificial Intelligence, Chromosome Mapping methods, Sequence Alignment methods, Sequence Analysis, DNA methods, and Software

Background: Recent years have seen the emergence of genome annotation methods based on the phylo-grammar, a probabilistic model combining continuous-time Markov chains and stochastic grammars. Previously, phylo-grammars have required considerable effort to implement, limiting their adoption by computational biologists.
Results: We have developed an open source software tool, xrate, for working with reversible, irreversible or parametric substitution models combined with stochastic context-free grammars. xrate efficiently estimates maximum-likelihood parameters and phylogenetic trees using a novel "phylo-EM" algorithm that we describe. The grammar is specified in an external configuration file, allowing users to design new grammars, estimate rate parameters from training data and annotate multiple sequence alignments without the need to recompile code from source. We have used xrate to measure codon substitution rates and predict protein and RNA secondary structures.
Conclusion: Our results demonstrate that xrate estimates biologically meaningful rates and makes predictions whose accuracy is comparable to that of more specialized tools.