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Bioconductor - FRASER (development version)

FRASER

This is the development version of FRASER; for the stable release version, see FRASER.

Find RAre Splicing Events in RNA-Seq Data

Bioconductor version: Development (3.22)

Detection of rare aberrant splicing events in transcriptome profiles. Read count ratio expectations are modeled by an autoencoder to control for confounding factors in the data. Given these expectations, the ratios are assumed to follow a beta-binomial distribution with a junction specific dispersion. Outlier events are then identified as read-count ratios that deviate significantly from this distribution. FRASER is able to detect alternative splicing, but also intron retention. The package aims to support diagnostics in the field of rare diseases where RNA-seq is performed to identify aberrant splicing defects.

Author: Christian Mertes [aut, cre] ORCID: 0000-0002-1091-205X , Ines Scheller [aut] ORCID: 0000-0003-4533-7857 , Karoline Lutz [ctb], Vicente Yepez [aut] ORCID: 0000-0001-7916-3643 , Julien Gagneur [aut] ORCID: 0000-0002-8924-8365

Maintainer: Christian Mertes <mertes at in.tum.de>

Citation (from within R, enter citation("FRASER")): Installation

To install this package, start R (version "4.5") and enter:


if (!require("BiocManager", quietly = TRUE))
    install.packages("BiocManager")

# The following initializes usage of Bioc devel
BiocManager::install(version='devel')

BiocManager::install("FRASER")

For older versions of R, please refer to the appropriate Bioconductor release.

Documentation

To view documentation for the version of this package installed in your system, start R and enter:

browseVignettes("FRASER")
Details biocViews AlternativeSplicing, Coverage, Genetics, RNASeq, Sequencing, Software Version 2.5.2 In Bioconductor since BioC 3.11 (R-4.0) (5 years) License file LICENSE Depends BiocParallel, data.table, Rsamtools, SummarizedExperiment Imports AnnotationDbi, BBmisc, Biobase, BiocGenerics, biomaRt, BSgenome, cowplot, DelayedArray(>= 0.5.11), DelayedMatrixStats, extraDistr, generics, GenomeInfoDb, GenomicAlignments, GenomicFeatures, GenomicRanges, IRanges, grDevices, ggplot2, ggrepel, HDF5Array, matrixStats, methods, OUTRIDER, pcaMethods, pheatmap, plotly, PRROC, RColorBrewer, rhdf5, Rsubread, R.utils, S4Vectors, stats, tibble, tools, utils, VGAM, RMTstat, pracma System Requirements URL https://github.com/gagneurlab/FRASER Bug Reports https://github.com/gagneurlab/FRASER/issues See More Suggests magick, BiocStyle, knitr, rmarkdown, testthat, covr, TxDb.Hsapiens.UCSC.hg19.knownGene, org.Hs.eg.db, rtracklayer, SGSeq, ggbio, biovizBase, BSgenome.Hsapiens.UCSC.hg38, BSgenome.Hsapiens.NCBI.GRCh38, BSgenome.Hsapiens.1000genomes.hs37d5, BSgenome.Hsapiens.UCSC.hg19 Linking To RcppArmadillo, Rcpp Enhances Depends On Me Imports Me Suggests Me Links To Me Build Report Build Report Package Archives

Follow Installation instructions to use this package in your R session.


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