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fRagmentomics

Extract Fragmentomics Features and Mutational Status

Bioconductor version: 3.23 · Package version: 1.0.0

Other Bioconductor versions

devel is the development version; release is the current stable one.

3.24 (devel), 3.23 (release)

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.

DOI: 10.18129/B9.bioc.fRagmentomics

Installation

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

BiocManager::install("fRagmentomics")

Details

MaintainerKillian Maudet <killian.maudet@gustaveroussy.fr>
AuthorKillian Maudet [aut, cre] (ORCID: <https://orcid.org/0009-0003-3237-092X>), Juliette Samaniego [aut] (ORCID: <https://orcid.org/0009-0002-3421-1810>), Yoann Pradat [aut] (ORCID: <https://orcid.org/0000-0002-4647-5779>), Elsa Bernard [aut] (ORCID: <https://orcid.org/0000-0002-2057-7187>)
LicenseGPL (>= 3)
URLhttps://github.com/ElsaB-Lab/fRagmentomics
Bug Reportshttps://github.com/ElsaB-Lab/fRagmentomics/issues
System Requirements(optional) bcftools (>= 1.21) for VCF left-alignment/normalization via 'bcftools norm'
Source branchRELEASE_3_23
Build report Bioconductor build system, r-universe
biocViewsAlignment, DNASeq, Genetics, IndelDetection, MultipleSequenceAlignment, Sequencing, Software, VariantDetection
Package Short Url https://bioconductor.org/packages/fRagmentomics/

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 1.0.0, https://bioconductor.org/packages/fRagmentomics.

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

Documentation

Download

Follow the installation instructions to use this package in your R session.

Source packagefRagmentomics_1.0.0.tar.gz
Windows binary (x86_64)fRagmentomics_1.0.0.zip
macOS binary (arm64)fRagmentomics_1.0.0.tgz
macOS binary (x86_64)fRagmentomics_1.0.0.tgz
Dependencies

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

Suggests: ragg, covr, testthat (>= 3.0.0), knitr, rmarkdown (>= 1.14), BiocStyle