<tt>acmgscaler</tt> : an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework

Authors

Joseph A. Marsh (ORCID: https://orcid.org/0000-0003-4132-0628)
Mihaly Badonyi (ORCID: https://orcid.org/0000-0002-8305-5618)

Institutions

Institute of Genetics and Cancer (GB)

Publication Details

Journal: Bioinformatics
Published: 2025-09-09
DOI: https://doi.org/10.1093/bioinformatics/btaf503
Citations: 5
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 10.90

Funders

European Commission
Medical Research Council

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article

<tt>acmgscaler</tt> : an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework

Joseph A. Marsh, Mihaly Badonyi

Sep 9, 2025

5 citations

Bioinformatics

Genomics and Rare Diseases

10.90

article

<tt>acmgscaler</tt> : an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework

Joseph A. Marsh, Mihaly Badonyi

September 9, 2025article en

5 citations

Abstract

No abstract available for this paper.

BioinformaticsVol. 41(10)

Institute of Genetics and Cancer (GB)

European Commission, Medical Research Council

Openalex Percentile: Top 1%

Genomics and Rare Diseases

10.90

DOI Open Access PDF OpenAlex

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