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fRagmentomics

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

All versions 3.24 (devel), 3.23 (release)

Extract Fragmentomics Features and Mutational Status


Bioconductor version: Development (3.24)

A user-friendly R package that enables the characterization of each cfDNA fragment overlapping one or multiple mutations of interest, starting from a sequencing file containing aligned reads (BAM file). fRagmentomics supports multiple mutation input formats (e.g., VCF, TSV, or string "chr:pos:ref:alt" representation), accommodates one-based and zero-based genomic conventions, handles mutation representation ambiguities, and accepts any reference file and species in FASTA format. For each cfDNA fragment, fRagmentomics outputs its size, its 3' and 5' sequences, and its mutational status. Optionally, when users set apply_bcftools_norm = TRUE, fRagmentomics invokes the external command-line tool bcftools norm to left-align and normalize variants. If bcftools is not found on the system PATH while this option is enabled, the function errors. The package does not install external software; see the INSTALL file for per-OS instructions.

Author: Killian Maudet [aut, cre] ORCID iD ORCID: 0009-0003-3237-092X , Juliette Samaniego [aut] ORCID iD ORCID: 0009-0002-3421-1810 , Yoann Pradat [aut] ORCID iD ORCID: 0000-0002-4647-5779 , Elsa Bernard [aut] ORCID iD ORCID: 0000-0002-2057-7187

Maintainer: Killian Maudet <killian.maudet at gustaveroussy.fr>

Citation (from within R, enter citation("fRagmentomics")):

Killian Maudet, Juliette Samaniego, Yoann Pradat, Elsa Bernard. fRagmentomics: Extract Fragmentomics Features and Mutational Status. doi:10.18129/B9.bioc.fRagmentomics, R package version 1.1.0, https://bioconductor.org/packages/fRagmentomics.

Generated from the package metadata; it may differ from the package's own citation.

Installation

To install this package, start R (version "4.6") and enter:

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

## The following initializes the development version of Bioconductor
BiocManager::install(version = "devel")

BiocManager::install("fRagmentomics")

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("fRagmentomics")
A Per-Fragment Analysis Workflow HTML R Script
Reference ManualPDF
NEWSText
INSTALLText

Details

biocViews Alignment, DNASeq, Genetics, IndelDetection, MultipleSequenceAlignment, Sequencing, Software, VariantDetection
Version1.1.0
In Bioconductor sinceBioC 3.23 (R-4.6) (< 6 months)
License GPL (>= 3)
Depends R (>= 4.1.0)
Imports Biostrings, data.table, dplyr, future, future.apply, GenomeInfoDb, GenomicRanges, ggh4x, ggplot2, ggseqlogo, IRanges, purrr, RColorBrewer, readr, rlang, Rsamtools (>= 2.4.0), S4Vectors, VariantAnnotation, scales, stringr, tibble, tidyr
System Requirements(optional) bcftools (>= 1.21) for VCF left-alignment/normalization via 'bcftools norm'
URLhttps://github.com/ElsaB-Lab/fRagmentomics
Bug Reportshttps://github.com/ElsaB-Lab/fRagmentomics/issues
See More
Suggests ragg, covr, testthat (>= 3.0.0), knitr, rmarkdown (>= 1.14), BiocStyle
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Package Archives

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

Source Package fRagmentomics_1.1.0.tar.gz
Windows Binary (x86_64) fRagmentomics_1.1.0.zip (64-bit only)
macOS Binary (big-sur-x86_64) fRagmentomics_1.1.0.tgz
macOS Binary (sonoma-arm64) fRagmentomics_1.1.0.tgz
Source Repositorygit clone https://git.bioconductor.org/packages/fRagmentomics
Source Repository (Developer Access)git clone git@git.bioconductor.org:packages/fRagmentomics
Package Short Url https://bioconductor.org/packages/fRagmentomics/
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