AS (alternative splicing) is a common mechanism of post-transcriptional gene regulation in eukaryotic organisms that expands the functional and regulatory diversity of a single gene by generating multiple mRNA isoforms that encode structurally and functionally distinct proteins. ASpli is an integrative pipeline and user-friendly R package that facilitates the analysis of changes in both annotated and novel AS events. ASpli integrates several independent signals in order to deal with the complexity that might arise in splicing patterns.

This package supports the application of diverse quality metrics to AffyBatch instances, summarizing these metrics via PCA, and then performing parametric outlier detection on the PCs to identify aberrant arrays with a fixed Type I error rate.

This package implements the circular binary segmentation (CBS) algorithm to segment DNA copy number data and identify genomic regions with abnormal copy number.

The purpose of this package is to identify traits in a dataset that can separate groups. This is done on two levels. First, clustering is performed, using an implementation of sparse K-means. Secondly, the generated clusters are used to predict outcomes of groups of individuals based on their distribution of observations in the different clusters. As certain clusters with separating information will be identified, and these clusters are defined by a sparse number of variables, this method can reduce the complexity of data, to only emphasize the data that actually matters.

This package provides tools to acquire, annotate, convert and store data for use in Bioconductor’s AnnotationHub.

This package provides tools to produce a graphical display, as a heat map, of measures of pairwise linkage disequilibria between SNPs. Users may optionally include the physical locations or genetic map distances of each SNP on the plot.

This is a package for de novo identification and extraction of differentially methylated regions (DMRs) from the human genome using Whole Genome Bisulfite Sequencing (WGBS) and Illumina Infinium Array (450K and EPIC) data. It provides functionality for filtering probes possibly confounded by SNPs and cross-hybridisation. It includes GRanges generation and plotting functions.

This package contains classes used in model-view-controller (MVC) design.

This package provides code for generating Annotation packages and their databases. Packages produced are intended to be used with AnnotationDbi.

This package provides tools for large-scale identification and advanced visualization of sets of conserved noncoding elements.

This package provides a set of low-level utilities to retrieve data from the UCSC Genome Browser. Most functions in the package access the data via the UCSC REST API but some of them query the UCSC MySQL server directly. Note that the primary purpose of the package is to support higher-level functionalities implemented in downstream packages like GenomeInfoDb or txdbmaker.

The package includes quality control metrics, a selection of normalization methods and novel methods to identify differentially methylated regions and to highlight copy number alterations.

This package provides functions for inferring continuous, branching lineage structures in low-dimensional data. Slingshot was designed to model developmental trajectories in single-cell RNA sequencing data and serve as a component in an analysis pipeline after dimensionality reduction and clustering. It is flexible enough to handle arbitrarily many branching events and allows for the incorporation of prior knowledge through supervised graph construction.

This package is able to perform an automatic or interactive quality control on FCS data acquired using flow cytometry instruments. By evaluating three different properties:

1. flow rate

2. signal acquisition, and

3. dynamic range,

the quality control enables the detection and removal of anomalies.

The two main functions in the package are pairwiseAlignment and stringDist. The former solves (Needleman-Wunsch) global alignment, (Smith-Waterman) local alignment, and (ends-free) overlap alignment problems. The latter computes the Levenshtein edit distance or pairwise alignment score matrix for a set of strings.

The SummarizedExperiment container contains one or more assays, each represented by a matrix-like object of numeric or other mode. The rows typically represent genomic ranges of interest and the columns represent samples.

Phyloseq provides a set of classes and tools to facilitate the import, storage, analysis, and graphical display of microbiome census data.

GOfuncR performs a gene ontology enrichment analysis based on the ontology enrichment software FUNC. GO-annotations are obtained from OrganismDb or OrgDb packages (Homo.sapiens by default); the GO-graph is included in the package and updated regularly. GOfuncR provides the standard candidate vs background enrichment analysis using the hypergeometric test, as well as three additional tests:

1. the Wilcoxon rank-sum test that is used when genes are ranked,

2. a binomial test that is used when genes are associated with two counts, and

3. a Chi-square or Fisher's exact test that is used in cases when genes are associated with four counts.

To correct for multiple testing and interdependency of the tests, family-wise error rates are computed based on random permutations of the gene-associated variables. GOfuncR also provides tools for exploring the ontology graph and the annotations, and options to take gene-length or spatial clustering of genes into account. It is also possible to provide custom gene coordinates, annotations and ontologies.

This package provides C and C++ HDF5 libraries for use in R packages.

BadRegionFinder is a package for identifying regions with a bad, acceptable and good coverage in sequence alignment data available as bam files. The whole genome may be considered as well as a set of target regions. Various visual and textual types of output are available.

This package provides functions for performing print-run and array level quality assessment.

This package provides S4 generic functions needed by Bioconductor proteomics packages.

This package provides Escherichia coli full genomes for several strains as provided by NCBI on 2008/08/05 and stored in Biostrings objects.

ATAC-seq, an assay for Transposase-Accessible Chromatin using sequencing, is a rapid and sensitive method for chromatin accessibility analysis. It was developed as an alternative method to MNase-seq, FAIRE-seq and DNAse-seq. The ATACseqQC package was developed to help users to quickly assess whether their ATAC-seq experiment is successful. It includes diagnostic plots of fragment size distribution, proportion of mitochondria reads, nucleosome positioning pattern, and CTCF or other Transcript Factor footprints.