scholarly journals Visualization of circular RNAs and their internal splicing events from transcriptomic data

2020 ◽  
Vol 36 (9) ◽  
pp. 2934-2935 ◽  
Author(s):  
Yi Zheng ◽  
Fangqing Zhao

Abstract Summary Circular RNAs (circRNAs) are proved to have unique compositions and splicing events distinct from canonical mRNAs. However, there is no visualization tool designed for the exploration of complex splicing patterns in circRNA transcriptomes. Here, we present CIRI-vis, a Java command-line tool for quantifying and visualizing circRNAs by integrating the alignments and junctions of circular transcripts. CIRI-vis can be applied to visualize the internal structure and isoform abundance of circRNAs and perform circRNA transcriptome comparison across multiple samples. Availability and implementation https://sourceforge.net/projects/ciri/files/CIRI-vis. Supplementary information Supplementary data are available at Bioinformatics online.

2020 ◽  
Vol 36 (10) ◽  
pp. 3263-3265 ◽  
Author(s):  
Lucas Czech ◽  
Pierre Barbera ◽  
Alexandros Stamatakis

Abstract Summary We present genesis, a library for working with phylogenetic data, and gappa, an accompanying command-line tool for conducting typical analyses on such data. The tools target phylogenetic trees and phylogenetic placements, sequences, taxonomies and other relevant data types, offer high-level simplicity as well as low-level customizability, and are computationally efficient, well-tested and field-proven. Availability and implementation Both genesis and gappa are written in modern C++11, and are freely available under GPLv3 at http://github.com/lczech/genesis and http://github.com/lczech/gappa. Supplementary information Supplementary data are available at Bioinformatics online.


2019 ◽  
Vol 35 (21) ◽  
pp. 4405-4407 ◽  
Author(s):  
Steven Monger ◽  
Michael Troup ◽  
Eddie Ip ◽  
Sally L Dunwoodie ◽  
Eleni Giannoulatou

Abstract Motivation In silico prediction tools are essential for identifying variants which create or disrupt cis-splicing motifs. However, there are limited options for genome-scale discovery of splice-altering variants. Results We have developed Spliceogen, a highly scalable pipeline integrating predictions from some of the individually best performing models for splice motif prediction: MaxEntScan, GeneSplicer, ESRseq and Branchpointer. Availability and implementation Spliceogen is available as a command line tool which accepts VCF/BED inputs and handles both single nucleotide variants (SNVs) and indels (https://github.com/VCCRI/Spliceogen). SNV databases with prediction scores are also available, covering all possible SNVs at all genomic positions within all Gencode-annotated multi-exon transcripts. Supplementary information Supplementary data are available at Bioinformatics online.


Author(s):  
Michael Milton ◽  
Natalie Thorne

Abstract Summary aCLImatise is a utility for automatically generating tool definitions compatible with bioinformatics workflow languages, by parsing command-line help output. aCLImatise also has an associated database called the aCLImatise Base Camp, which provides thousands of pre-computed tool definitions. Availability and implementation The latest aCLImatise source code is available within a GitHub organisation, under the GPL-3.0 license: https://github.com/aCLImatise. In particular, documentation for the aCLImatise Python package is available at https://aclimatise.github.io/CliHelpParser/, and the aCLImatise Base Camp is available at https://aclimatise.github.io/BaseCamp/. Supplementary information Supplementary data are available at Bioinformatics online.


Author(s):  
Aleksandra I Jarmolinska ◽  
Anna Gambin ◽  
Joanna I Sulkowska

Abstract Summary The biggest hurdle in studying topology in biopolymers is the steep learning curve for actually seeing the knots in structure visualization. Knot_pull is a command line utility designed to simplify this process—it presents the user with a smoothing trajectory for provided structures (any number and length of protein, RNA or chromatin chains in PDB, CIF or XYZ format), and calculates the knot type (including presence of any links, and slipknots when a subchain is specified). Availability and implementation Knot_pull works under Python >=2.7 and is system independent. Source code and documentation are available at http://github.com/dzarmola/knot_pull under GNU GPL license and include also a wrapper script for PyMOL for easier visualization. Examples of smoothing trajectories can be found at: https://www.youtube.com/watch?v=IzSGDfc1vAY. Supplementary information Supplementary data are available at Bioinformatics online.


Author(s):  
Michelle J. Lin ◽  
Ryan C. Shean ◽  
Negar Makhsous ◽  
Alexander L. Greninger

AbstractWith their small genomes, fast evolutionary rates, and clinical significance, viruses have long been fodder for studies of whole genome evolution. One common need in these studies is the analysis of viral evolution over time through longitudinal sampling. However, there exists no simple tool to automate such analyses. We created a simple command-line visualization tool called LAVA (Longitudinal Analysis of Viral Alleles). LAVA allows dynamic and interactive visualization of viral evolution across the genome and over time. Results are easily shared via a single HTML file that also allows interactive analysis based on read depth and allele frequency. LAVA requires minimal input and runs in minutes for most use cases. LAVA is programmed mainly in Python 3 and is compatible with Mac and Linux machines. LAVA is a user-friendly command-line tool for generating, visualizing, and sharing the results of longitudinal viral genome evolution analysis. Instructions for downloading, installing, and using LAVA can be found at https://github.com/michellejlin/lava.


2020 ◽  
Vol 36 (12) ◽  
pp. 3920-3921
Author(s):  
Mattia Tomasoni ◽  
Sergio Gómez ◽  
Jake Crawford ◽  
Weijia Zhang ◽  
Sarvenaz Choobdar ◽  
...  

Abstract Summary We define a disease module as a partition of a molecular network whose components are jointly associated with one or several diseases or risk factors thereof. Identification of such modules, across different types of networks, has great potential for elucidating disease mechanisms and establishing new powerful biomarkers. To this end, we launched the ‘Disease Module Identification (DMI) DREAM Challenge’, a community effort to build and evaluate unsupervised molecular network modularization algorithms. Here, we present MONET, a toolbox providing easy and unified access to the three top-performing methods from the DMI DREAM Challenge for the bioinformatics community. Availability and implementation MONET is a command line tool for Linux, based on Docker and Singularity containers; the core algorithms were written in R, Python, Ada and C++. It is freely available for download at https://github.com/BergmannLab/MONET.git. Supplementary information Supplementary data are available at Bioinformatics online.


2019 ◽  
Vol 35 (22) ◽  
pp. 4843-4845
Author(s):  
Phaedra Agius ◽  
Heather Geiger ◽  
Nicolas Robine

Abstract Motivation The association of splicing signatures with disease is a leading area of study for prognosis, diagnosis and therapy. We present a novel fast-performing annotation-dependent tool called SCANVIS for scoring and annotating splice junctions (SJs), with an efficient visualization tool that highlights SJ details such as frame-shifts and annotation support for individual samples or a sample cohort. Results Using publicly available samples, we show that the tissue specificity inherent in splicing signatures is maintained with the Relative Read Support scoring method in SCANVIS, and we showcase some visualizations to demonstrate the usefulness of incorporating annotation details into sashimi plots. Availability and implementation https://github.com/nygenome/SCANVIS and https://bioconductor.org/packages/SCANVIS. Supplementary information Supplementary data are available at Bioinformatics online.


2019 ◽  
Vol 35 (21) ◽  
pp. 4411-4412 ◽  
Author(s):  
Vinhthuy Phan ◽  
Diem-Trang Pham ◽  
Caroline Melton ◽  
Adam J Ramsey ◽  
Bernie J Daigle ◽  
...  

Abstract Summary Although heteroplasmy has been studied extensively in animal systems, there is a lack of tools for analyzing, exploring and visualizing heteroplasmy at the genome-wide level in other taxonomic systems. We introduce icHET, which is a computational workflow that produces an interactive visualization that facilitates the exploration, analysis and discovery of heteroplasmy across multiple genomic samples. icHET works on short reads from multiple samples from any organism with an organellar reference genome (mitochondrial or plastid) and a nuclear reference genome. Availability and implementation The software is available at https://github.com/vtphan/HeteroplasmyWorkflow. Supplementary information Supplementary data are available at Bioinformatics online.


2019 ◽  
Vol 36 (7) ◽  
pp. 2040-2046 ◽  
Author(s):  
Fabian Klötzl ◽  
Bernhard Haubold

Abstract Motivation Tracking disease outbreaks by whole-genome sequencing leads to the collection of large samples of closely related sequences. Five years ago, we published a method to accurately compute all pairwise distances for such samples by indexing each sequence. Since indexing is slow, we now ask whether it is possible to achieve similar accuracy when indexing only a single sequence. Results We have implemented this idea in the program phylonium and show that it is as accurate as its predecessor and roughly 100 times faster when applied to all 2678 Escherichia coli genomes contained in ENSEMBL. One of the best published programs for rapidly computing pairwise distances, mash, analyzes the same dataset four times faster but, with default settings, it is less accurate than phylonium. Availability and implementation Phylonium runs under the UNIX command line; its C++ sources and documentation are available from github.com/evolbioinf/phylonium. Supplementary information Supplementary data are available at Bioinformatics online.


Author(s):  
Lucille Lopez-Delisle ◽  
Leily Rabbani ◽  
Joachim Wolff ◽  
Vivek Bhardwaj ◽  
Rolf Backofen ◽  
...  

Abstract Motivation Generating publication ready plots to display multiple genomic tracks can pose a serious challenge. Making desirable and accurate figures requires considerable effort. This is usually done by hand or by using a vector graphic software. Results pyGenomeTracks (PGT) is a modular plotting tool that easily combines multiple tracks. It enables a reproducible and standardized generation of highly customizable and publication ready images. Availability PGT is available through a graphical interface on https://usegalaxy.eu and through the command line. It is provided on conda via the bioconda channel, on pip and it is openly developed on github: https://github.com/deeptools/pyGenomeTracks. Supplementary information Supplementary data are available at Bioinformatics online.


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