scholarly journals hypeR: An R Package for Geneset Enrichment Workflows

2019 ◽  
Author(s):  
Anthony Federico ◽  
Stefano Monti
Keyword(s):  
High Throughput Sequencing ◽  
R Package ◽  
Supplementary Information ◽  
Sequencing Data ◽  
Wide Audience ◽  
Popular Method ◽  
Link Type ◽  
High Throughput Sequencing Data ◽  
One Stop ◽  
Recent Version

ABSTRACTSummaryGeneset enrichment is a popular method for annotating high-throughput sequencing data. Existing tools fall short in providing the flexibility to tackle the varied challenges researchers face in such analyses, particularly when analyzing many signatures across multiple experiments. We present a comprehensive R package for geneset enrichment workflows that offers multiple enrichment, visualization, and sharing methods in addition to novel features such as hierarchical geneset analysis and built-in markdown reporting. hypeR is a one-stop solution to performing geneset enrichment for a wide audience and range of use cases.Availability and implementationThe most recent version of the package is available at https://github.com/montilab/hypeR.Supplementary informationComprehensive documentation and tutorials, are available at https://montilab.github.io/hypeR-docs.

scholarly journals hypeR: an R package for geneset enrichment workflows

2019 ◽  
Author(s):  
Anthony Federico ◽  
Stefano Monti
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
R Package ◽  
Use Cases ◽  
Sequencing Data ◽  
Wide Audience ◽  
Popular Method ◽  
High Throughput Sequencing Data ◽  
One Stop ◽  
Recent Version

Abstract Summary Geneset enrichment is a popular method for annotating high-throughput sequencing data. Existing tools fall short in providing the flexibility to tackle the varied challenges researchers face in such analyses, particularly when analyzing many signatures across multiple experiments. We present a comprehensive R package for geneset enrichment workflows that offers multiple enrichment, visualization, and sharing methods in addition to novel features such as hierarchical geneset analysis and built-in markdown reporting. hypeR is a one-stop solution to performing geneset enrichment for a wide audience and range of use cases. Availability and implementation The most recent version of the package is available at https://github.com/montilab/hypeR. Contact [email protected] or [email protected]

scholarly journals circtools—a one-stop software solution for circular RNA research

2018 ◽  
Vol 35 (13) ◽  
pp. 2326-2328 ◽  
Author(s):  
Tobias Jakobi ◽  
Alexey Uvarovskii ◽  
Christoph Dieterich
Keyword(s):  
High Throughput Sequencing ◽  
Circular Rna ◽  
Statistical Testing ◽  
Supplementary Information ◽  
Circular Rnas ◽  
Sequencing Data ◽  
High Throughput Sequencing Data ◽  
Multi Stage ◽  
Sequence Reconstruction ◽  
One Stop

Abstract Motivation Circular RNAs (circRNAs) originate through back-splicing events from linear primary transcripts, are resistant to exonucleases, are not polyadenylated and have been shown to be highly specific for cell type and developmental stage. CircRNA detection starts from high-throughput sequencing data and is a multi-stage bioinformatics process yielding sets of potential circRNA candidates that require further analyses. While a number of tools for the prediction process already exist, publicly available analysis tools for further characterization are rare. Our work provides researchers with a harmonized workflow that covers different stages of in silico circRNA analyses, from prediction to first functional insights. Results Here, we present circtools, a modular, Python-based framework for computational circRNA analyses. The software includes modules for circRNA detection, internal sequence reconstruction, quality checking, statistical testing, screening for enrichment of RBP binding sites, differential exon RNase R resistance and circRNA-specific primer design. circtools supports researchers with visualization options and data export into commonly used formats. Availability and implementation circtools is available via https://github.com/dieterich-lab/circtools and http://circ.tools under GPLv3.0. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals HTSSIP: an R package for analysis of high throughput sequencing data from nucleic acid stable isotope probing (SIP) experiments

2017 ◽  
Author(s):  
Nicholas D. Youngblut ◽  
Samuel E. Barnett ◽  
Daniel H. Buckley
Keyword(s):  
High Resolution ◽  
Stable Isotope ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
R Package ◽  
Stable Isotope Probing ◽  
Sequencing Data ◽  
Metabolic Processes ◽  
Link Type ◽  
High Throughput Sequencing Data

AbstractCombining high throughput sequencing with stable isotope probing (HTS-SIP) is a powerful method for mapping in situ metabolic processes to thousands of microbial taxa. However, accurately mapping metabolic processes to taxa is complex and challenging. Multiple HTS-SIP data analysis methods have been developed, including high-resolution stable isotope probing (HR-SIP), multi-window high-resolution stable isotope probing (MW-HR-SIP), quantitative stable isotope probing (q-SIP), and ΔBD. Currently, the computational tools to perform these analyses are either not publicly available or lack documentation, testing, and developer support. To address this shortfall, we have developed the HTSSIP R package, a toolset for conducting HTS-SIP analyses in a straightforward and easily reproducible manner. The HTSSIP package, along with full documentation and examples, is available from CRAN at https://cran.r-project.org/web/packages/HTSSIP/index.html and Github at https://github.com/nick-youngblut/HTSSIP.

scholarly journals An R Package for Divergence Analysis of Omics Data

2019 ◽  
Author(s):  
Wikum Dinalankara ◽  
Qian Ke ◽  
Donald Geman ◽  
Luigi Marchionni
Keyword(s):  
High Throughput Sequencing ◽  
R Package ◽  
The Cancer Genome Atlas ◽  
High Dimensional ◽  
Omics Data ◽  
Sequencing Data ◽  
High Throughput Sequencing Data ◽  
Ternary Code ◽  
Cancer Genome Atlas ◽  
Level Analysis

AbstractGiven the ever-increasing amount of high-dimensional and complex omics data becoming available, it is increasingly important to discover simple but effective methods of analysis. Divergence analysis transforms each entry of a high-dimensional omics profile into a digitized (binary or ternary) code based on the deviation of the entry from a given baseline population. This is a novel framework that is significantly different from existing omics data analysis methods: it allows digitization of continuous omics data at the univariate or multivariate level, facilitates sample level analysis, and is applicable on many different omics platforms. The divergence package, available on the R platform through the Bioconductor repository collection, provides easy-to-use functions for carrying out this transformation. Here we demonstrate how to use the package with sample high throughput sequencing data from the Cancer Genome Atlas.

ADFinder: accurate detection of programmed DNA elimination using NGS high-throughput sequencing data

2020 ◽  
Vol 36 (12) ◽  
pp. 3632-3636 ◽  
Author(s):  
Weibo Zheng ◽  
Jing Chen ◽  
Thomas G Doak ◽  
Weibo Song ◽  
Ying Yan
Keyword(s):  
High Throughput ◽  
Large Scale ◽  
High Throughput Sequencing ◽  
Supplementary Information ◽  
Sequencing Data ◽  
Source Codes ◽  
High Throughput Sequencing Data ◽  
Dna Elimination ◽  
Multiple Alternative ◽  
Dna Splicing

Abstract Motivation Programmed DNA elimination (PDE) plays a crucial role in the transitions between germline and somatic genomes in diverse organisms ranging from unicellular ciliates to multicellular nematodes. However, software specific for the detection of DNA splicing events is scarce. In this paper, we describe Accurate Deletion Finder (ADFinder), an efficient detector of PDEs using high-throughput sequencing data. ADFinder can predict PDEs with relatively low sequencing coverage, detect multiple alternative splicing forms in the same genomic location and calculate the frequency for each splicing event. This software will facilitate research of PDEs and all down-stream analyses. Results By analyzing genome-wide DNA splicing events in two micronuclear genomes of Oxytricha trifallax and Tetrahymena thermophila, we prove that ADFinder is effective in predicting large scale PDEs. Availability and implementation The source codes and manual of ADFinder are available in our GitHub website: https://github.com/weibozheng/ADFinder. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals fluff: exploratory analysis and visualization of high-throughput sequencing data

PeerJ ◽  
2016 ◽  
Vol 4 ◽  
pp. e2209 ◽  
Author(s):  
Georgios Georgiou ◽  
Simon J. van Heeringen
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Developmental Stages ◽  
Command Line ◽  
Clustering Methods ◽  
Sequencing Data ◽  
Link Type ◽  
High Throughput Sequencing Data ◽  
Genome Wide ◽  
Genome Wide Data

Summary.In this article we describe fluff, a software package that allows for simple exploration, clustering and visualization of high-throughput sequencing data mapped to a reference genome. The package contains three command-line tools to generate publication-quality figures in an uncomplicated manner using sensible defaults. Genome-wide data can be aggregated, clustered and visualized in a heatmap, according to different clustering methods. This includes a predefined setting to identify dynamic clusters between different conditions or developmental stages. Alternatively, clustered data can be visualized in a bandplot. Finally, fluff includes a tool to generate genomic profiles. As command-line tools, the fluff programs can easily be integrated into standard analysis pipelines. The installation is straightforward and documentation is available athttp://fluff.readthedocs.org.Availability.fluff is implemented in Python and runs on Linux. The source code is freely available for download athttps://github.com/simonvh/fluff.

Inference of viral quasispecies with a paired de Bruijn graph

2020 ◽  
Author(s):  
Borja Freire ◽  
Susana Ladra ◽  
Jose R Paramá ◽  
Leena Salmela
Keyword(s):  
High Throughput Sequencing ◽  
De Novo ◽  
Supplementary Information ◽  
De Bruijn Graph ◽  
Viral Quasispecies ◽  
Sequencing Data ◽  
De Bruijn Graphs ◽  
Sequencing Errors ◽  
High Throughput Sequencing Data ◽  
De Bruijn

Abstract Motivation RNA viruses exhibit a high mutation rate and thus they exist in infected cells as a population of closely related strains called viral quasispecies. The viral quasispecies assembly problem asks to characterize the quasispecies present in a sample from high-throughput sequencing data. We study the de novo version of the problem, where reference sequences of the quasispecies are not available. Current methods for assembling viral quasispecies are either based on overlap graphs or on de Bruijn graphs. Overlap graph-based methods tend to be accurate but slow, whereas de Bruijn graph-based methods are fast but less accurate. Results We present viaDBG, which is a fast and accurate de Bruijn graph-based tool for de novo assembly of viral quasispecies. We first iteratively correct sequencing errors in the reads, which allows us to use large k-mers in the de Bruijn graph. To incorporate the paired-end information in the graph, we also adapt the paired de Bruijn graph for viral quasispecies assembly. These features enable the use of long-range information in contig construction without compromising the speed of de Bruijn graph-based approaches. Our experimental results show that viaDBG is both accurate and fast, whereas previous methods are either fast or accurate but not both. In particular, viaDBG has comparable or better accuracy than SAVAGE, while being at least nine times faster. Furthermore, the speed of viaDBG is comparable to PEHaplo but viaDBG is able to retrieve also low abundance quasispecies, which are often missed by PEHaplo. Availability and implementation viaDBG is implemented in C++ and it is publicly available at https://bitbucket.org/bfreirec1/viadbg. All datasets used in this article are publicly available at https://bitbucket.org/bfreirec1/data-viadbg/. Supplementary information Supplementary data are available at Bioinformatics online.

MitoFlex: an efficient, high-performance toolkit for animal mitogenome assembly, annotation, and visualization

2021 ◽  
Author(s):  
Jun-Yu Li ◽  
Wei-Xuan Li ◽  
An-Tai Wang ◽  
Zhang Yu
Keyword(s):  
Mitochondrial Genome ◽  
High Performance ◽  
High Throughput Sequencing ◽  
De Novo ◽  
Supplementary Information ◽  
Sequencing Data ◽  
Protein Coding ◽  
High Throughput Sequencing Data ◽  
Genome Analysis Toolkit ◽  
Overall Performance

Abstract Summary MitoFlex is a linux-based mitochondrial genome analysis toolkit, which provides a complete workflow of raw data filtering, de novo assembly, mitochondrial genome identification and annotation for animal high throughput sequencing data. The overall performance was compared between MitoFlex and its analogue MitoZ, in terms of protein coding gene recovery, memory consumption and processing speed. Availability MitoFlex is available at https://github.com/Prunoideae/MitoFlex under GPLv3 license. Supplementary information Supplementary data are available at Bioinformatics online.

Measuring reproducibility of virus metagenomics analyses using bootstrap samples from FASTQ-files

2020 ◽  
Author(s):  
Babak Saremi ◽  
Moritz Kohls ◽  
Pamela Liebig ◽  
Ursula Siebert ◽  
Klaus Jung
Keyword(s):  
Mixture Model ◽  
High Throughput Sequencing ◽  
Supplementary Information ◽  
Sequencing Data ◽  
Bootstrap Sampling ◽  
Technical Errors ◽  
High Throughput Sequencing Data ◽  
The Difference ◽  
Real World Datasets ◽  
Highly Correlated

Abstract Motivation High-throughput sequencing data can be affected by different technical errors, e.g. from probe preparation or false base calling. As a consequence, reproducibility of experiments can be weakened. In virus metagenomics, technical errors can result in falsely identified viruses in samples from infected hosts. We present a new resampling approach based on bootstrap sampling of sequencing reads from FASTQ-files in order to generate artificial replicates of sequencing runs which can help to judge the robustness of an analysis. In addition, we evaluate a mixture model on the distribution of read counts per virus to identify potentially false positive findings. Results The evaluation of our approach on an artificially generated dataset with known viral sequence content shows in general a high reproducibility of uncovering viruses in sequencing data, i.e. the correlation between original and mean bootstrap read count was highly correlated. However, the bootstrap read counts can also indicate reduced or increased evidence for the presence of a virus in the biological sample. We also found that the mixture-model fits well to the read counts, and furthermore, it provides a higher accuracy on the original or on the bootstrap read counts than on the difference between both. The usefulness of our methods is further demonstrated on two freely available real-world datasets from harbor seals. Availability and implementation We provide a Phyton tool, called RESEQ, available from https://github.com/babaksaremi/RESEQ that allows efficient generation of bootstrap reads from an original FASTQ-file. Supplementary information Supplementary data are available at Bioinformatics online.

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