MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.

ABSTRACT: We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants (single nucleotide or small indels) according to the recommendations of the American College of Medical Genetics (ACMG) and the Association for Clinical Genomic Science (ACGS). The MAGI-ACMG classification algorithm uses information retrieved through the VarSome Application Programming Interface (API), integrates the AutoPVS1 tool in order to evaluate more precisely the attribution of the PVS1 criterion, and performs the customized assignment of specific criteria. In addition, we propose a sub-classification scheme for variants of uncertain significance (VUS) according to their proximity either towards the "likely pathogenic" or "likely benign" classes. We also conceived a pathogen

SUBMITTER: Cristofoli F 

PROVIDER: S-EPMC10454715 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature