8000 GitHub - badonyi/acmgscaler: An R package and Colab notebook for variant effect calibration to ACMG/AMP evidence strength
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acmgscaler

Open in Colab AppVeyor Build Status License DOI:10.1101/2025.05.16.654507v1

The goal of the acmgscaler R package is to provide a robust approach for gene-level calibration of variant effect scores, such as computational predictions or functional assay results, against ACMG/AMP evidence thresholds. The package is lightweight and written entirely in base R, without additional dependencies.

Colab notebook

A plug-and-play Google Colab notebook with a simple interface is available for all users.

Installation

You can install the development version of acmgscaler directly from GitHub using the devtools package:

# install devtools if you haven't already
install.packages('devtools')

# install the acmgscaler package from GitHub
devtools::install_github('badonyi/acmgscaler')

How to cite acmgscaler

If you find this package useful, refer to Badonyi & Marsh, bioRxiv (2025); doi: 10.1101/2025.05.16.654507v1

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An R package and Colab notebook for variant effect calibration to ACMG/AMP evidence strength

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