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Description

Comprehensive Analysis of 'GENCODE' Annotations and Splice Site Motifs.

A comprehensive suite of helper functions designed to facilitate the analysis of genomic annotations from the 'GENCODE' database <https://www.gencodegenes.org/>, supporting both human and mouse genomes. This toolkit enables users to extract, filter, and analyze a wide range of annotation features including genes, transcripts, exons, and introns across different 'GENCODE' releases. It provides functionality for cross-version comparisons, allowing researchers to systematically track annotation updates, structural changes, and feature-level differences between releases. In addition, the package can generate high-quality FASTA files containing donor and acceptor splice site motifs, which are formatted for direct input into the 'MaxEntScan' tool (Yeo and Burge, 2004 <doi:10.1089/1066527041410418>), enabling accurate calculation of splice site strength scores.

GencoDymo2: Comprehensive Analysis of GENCODE Annotations and Splice Site Motifs

Project Status: Active โ€“ The project has reached a stable, usablestate and is being activelydeveloped. Licence: GPLv3 Maintenance GitHubissues Platform Website DOI
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๐Ÿ“ฆ Overview

GencoDymo2 is an R package tailored for dynamic extraction, exploration, and comparison of gene annotations from the GENCODE database for human and mouse genomes. This tool facilitates:

  • Automated retrieval of the latest or specific GENCODE releases
  • Visualization and quantification of annotation changes across versions
  • Extraction of introns, exons, splice motifs
  • Generation of splice site FASTA files for tools like MaxEntScan

It bridges bioinformatics workflows and annotation dynamics, enhancing reproducibility and comparative studies in transcriptome and splicing research.


๐Ÿ’ป Installation

You can install the stable version of GencoDymo2 from CRAN:

# Install the stable version from CRAN
install.packages("GencoDymo2")

Or you can install the development version from GitHub for the latest features:

#Install the development version from GitHub
install.packages("pak")
pak::pkg_install("monahton/GencoDymo2")
# Load the package
library(GencoDymo2)

๐Ÿš€ Getting Started

To get started, view the vignette:

vignette("GencoDymo2")

Or visit the documentation website:
๐Ÿ‘‰ https://monahton.github.io/GencoDymo2/
๐Ÿ‘‰ https://monahton.github.io/GencoDymo2/articles/GencoDymo2_vignette.html


๐Ÿ“ Functions Highlights

FunctionDescription
get_latest_release()Retrieves the latest available GENCODE release per species
compare_release()compare annotation statistics between releases
extract_introns()Extracts and processes introns from annotation
assign_splice_sites()Assign the donor and acceptor splice sites
extract_ss_motif()Extract splicing motifs for MaxEntScan tool

๐Ÿ› ๏ธ Development & Contributing

GencoDymo2 is actively developed. Contributions and suggestions are welcome!


:writing_hand: Author

Monah Abou Alezz, PhD โ€“ [email protected].

San Raffaele Telethon Institute for Gene Therapy (SR-TIGET)
IRCCS San Raffaele Scientific Institute, Milan, Italy

๐ŸŒ Personal website

saythanks


๐Ÿงช Related Projects


๐Ÿ“ฃ Acknowledgments

Developed as part of ongoing research on lncRNA splicing and gene annotation evolution.
Special thanks to colleagues at IGM-CNR and collaborators across splicing research projects.

Metadata

Version

1.0.4

License

Unknown

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