scholarly journals HilbertCurve: an R/Bioconductor package for high-resolution visualization of genomic data

2016 ◽  
Vol 32 (15) ◽  
pp. 2372-2374 ◽  
Author(s):  
Zuguang Gu ◽  
Roland Eils ◽  
Matthias Schlesner
2017 ◽  
Author(s):  
Bernat Gel ◽  
Eduard Serra

AbstractMotivationData visualization is a crucial tool for data exploration, analysis and interpretation. For the visualization of genomic data there lacks a tool to create customizable non-circular plots of whole genomes from any species.ResultsWe have developed karyoploteR, an R/Bioconductor package to create linear chromosomal representations of any genome with genomic annotations and experimental data plotted along them. Plot creation process is inspired in R base graphics, with a main function creating karyoplots with no data and multiple additional functions, including custom functions written by the end-user, adding data and other graphical elements. This approach allows the creation of highly customizable plots from arbitrary data with complete freedom on data positioning and representation.AvailabilitykaryoploteR is released under Artistic-2.0 License. Source code and documentation are freely available through Bioconductor (http://www.bioconductor.org/packages/karyoploteR)[email protected]


2013 ◽  
Vol 368 (1614) ◽  
pp. 20120202 ◽  
Author(s):  
Nicholas J. Croucher ◽  
Simon R. Harris ◽  
Yonatan H. Grad ◽  
William P. Hanage

Sequence data are well established in the reconstruction of the phylogenetic and demographic scenarios that have given rise to outbreaks of viral pathogens. The application of similar methods to bacteria has been hindered in the main by the lack of high-resolution nucleotide sequence data from quality samples. Developing and already available genomic methods have greatly increased the amount of data that can be used to characterize an isolate and its relationship to others. However, differences in sequencing platforms and data analysis mean that these enhanced data come with a cost in terms of portability: results from one laboratory may not be directly comparable with those from another. Moreover, genomic data for many bacteria bear the mark of a history including extensive recombination, which has the potential to greatly confound phylogenetic and coalescent analyses. Here, we discuss the exacting requirements of genomic epidemiology, and means by which the distorting signal of recombination can be minimized to permit the leverage of growing datasets of genomic data from bacterial pathogens.


2017 ◽  
Author(s):  
Ruidong Li ◽  
Han Qu ◽  
Shibo Wang ◽  
Julong Wei ◽  
Le Zhang ◽  
...  

AbstractThe large-scale multidimensional omics data in the Genomic Data Commons (GDC) provides opportunities to investigate the crosstalk among different RNA species and their regulatory mechanisms in cancers. Easy-to-use bioinformatics pipelines are needed to facilitate such studies. We have developed a user-friendly R/Bioconductor package, named GDCRNATools, to facilitate downloading, organizing, and analyzing RNA data in GDC with an emphasis on deciphering the lncRNA-mRNA related competing endogenous RNAs (ceRNAs) regulatory network in cancers. Many widely used bioinformatics tools and databases are utilized in our package. Users can easily pack preferred downstream analysis pipelines or integrate their own pipelines into the workflow. Interactive shiny web apps built in GDCRNATools greatly improve visualization of results from the analysis.AvailabilityGDCRNATools is an R/Bioconductor package that is freely available at https://github.com/Jialab-UCR/GDCRNATools


F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1239
Author(s):  
Shraddha Pai ◽  
Philipp Weber ◽  
Ruth Isserlin ◽  
Hussam Kaka ◽  
Shirley Hui ◽  
...  

Patient classification based on clinical and genomic data will further the goal of precision medicine. Interpretability is of particular relevance for models based on genomic data, where sample sizes are relatively small (in the hundreds), increasing overfitting risk netDx is a machine learning method to integrate multi-modal patient data and build a patient classifier. Patient data are converted into networks of patient similarity, which is intuitive to clinicians who also use patient similarity for medical diagnosis. Features passing selection are integrated, and new patients are assigned to the class with the greatest profile similarity. netDx has excellent performance, outperforming most machine-learning methods in binary cancer survival prediction. It handles missing data – a common problem in real-world data – without requiring imputation. netDx also has excellent interpretability, with native support to group genes into pathways for mechanistic insight into predictive features. The netDx Bioconductor package provides multiple workflows for users to build custom patient classifiers. It provides turnkey functions for one-step predictor generation from multi-modal data, including feature selection over multiple train/test data splits. Workflows offer versatility with custom feature design, choice of similarity metric; speed is improved by parallel execution. Built-in functions and examples allow users to compute model performance metrics such as AUROC, AUPR, and accuracy. netDx uses RCy3 to visualize top-scoring pathways and the final integrated patient network in Cytoscape. Advanced users can build more complex predictor designs with functional building blocks used in the default design. Finally, the netDx Bioconductor package provides a novel workflow for pathway-based patient classification from sparse genetic data.


2021 ◽  
Vol 11 (2) ◽  
Author(s):  
  Kismiantini ◽  
Osval Antonio Montesinos-López ◽  
José Crossa ◽  
Ezra Putranda Setiawan ◽  
Dhoriva Urwatul Wutsqa

Abstract Genomic selection (GS) is revolutionizing plant breeding since the selection process is done with the help of statistical machine learning methods. A model is trained with a reference population and then it is used for predicting the candidate individuals available in the testing set. However, given that breeding phenotypic values are very noisy, new models must be able to integrate not only genotypic and environmental data but also high-resolution images that have been collected by breeders with advanced image technology. For this reason, this paper explores the use of generalized Poisson regression (GPR) for genome-enabled prediction of count phenotypes using genomic and hyperspectral images. The GPR model allows integrating input information of many sources like environments, genomic data, high resolution data, and interaction terms between these three sources. We found that the best prediction performance was obtained when the three sources of information were taken into account in the predictor, and those measures of high-resolution images close to the harvest day provided the best prediction performance.


2018 ◽  
Author(s):  
Stuart Lee ◽  
Dianne Cook ◽  
Michael Lawrence

The Bioconductor project provides many interoperable data abstractions for analyzing high-throughput genomics experiments; however implementing a typical genomic workflow with Bioconductor requires learning these abstractions and understanding them at an integrative level. This places a large cognitive burden on the user, especially for non-programmers. To reduce this burden we have created a grammar of genomic data transformation that operates on a single, central Bioconductor data structure, GRanges, which naturally represents genomic intervals and their associated measurements. The grammar defines verbs for performing actions on and between genomic interval data through a simplified, coherent interface to existing Bioconductor infrastructure, resulting in fluent analysis workflows. We have implemented this grammar as an R/Bioconductor package called plyranges.


F1000Research ◽  
2021 ◽  
Vol 9 ◽  
pp. 1239
Author(s):  
Shraddha Pai ◽  
Philipp Weber ◽  
Ruth Isserlin ◽  
Hussam Kaka ◽  
Shirley Hui ◽  
...  

Patient classification based on clinical and genomic data will further the goal of precision medicine. Interpretability is of particular relevance for models based on genomic data, where sample sizes are relatively small (in the hundreds), increasing overfitting risk netDx is a machine learning method to integrate multi-modal patient data and build a patient classifier. Patient data are converted into networks of patient similarity, which is intuitive to clinicians who also use patient similarity for medical diagnosis. Features passing selection are integrated, and new patients are assigned to the class with the greatest profile similarity. netDx has excellent performance, outperforming most machine-learning methods in binary cancer survival prediction. It handles missing data – a common problem in real-world data – without requiring imputation. netDx also has excellent interpretability, with native support to group genes into pathways for mechanistic insight into predictive features. The netDx Bioconductor package provides multiple workflows for users to build custom patient classifiers. It provides turnkey functions for one-step predictor generation from multi-modal data, including feature selection over multiple train/test data splits. Workflows offer versatility with custom feature design, choice of similarity metric; speed is improved by parallel execution. Built-in functions and examples allow users to compute model performance metrics such as AUROC, AUPR, and accuracy. netDx uses RCy3 to visualize top-scoring pathways and the final integrated patient network in Cytoscape. Advanced users can build more complex predictor designs with functional building blocks used in the default design. Finally, the netDx Bioconductor package provides a novel workflow for pathway-based patient classification from sparse genetic data.


2014 ◽  
Author(s):  
Jeffrey Leek

It is now well known that unwanted noise and unmodeled artifacts such as batch effects can dramatically reduce the accuracy of statistical inference in genomic experiments. We introduced surrogate variable analysis for estimating these artifacts by (1) identifying the part of the genomic data only affected by artifacts and (2) estimating the artifacts with principal components or singular vectors of the subset of the data matrix. The resulting estimates of artifacts can be used in subsequent analyses as adjustment factors. Here I describe an update to the sva approach that can be applied to analyze count data or FPKMs from sequencing experiments. I also describe the addition of supervised sva (ssva) for using control probes to identify the part of the genomic data only affected by artifacts. These updates are available through the surrogate variable analysis (sva) Bioconductor package.


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