@misc{indiciae042c3751703d, title = {acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework.}, author = {Mihaly Badonyi and Joseph A Marsh}, year = {2025}, doi = {10.1093/bioinformatics/btaf503}, url = {https://pubmed.ncbi.nlm.nih.gov/40929116/}, note = {Source identifier: 40929116} }