Automatic Variant Annotation Platform

Evaluating the pathogenicity of genetic variants is a crucial task in genomic research. The ACMG/AMP guidelines provide a comprehensive framework for this assessment, comprising 28 criteria, 18 of which can be automatically determined using software tools. Despite the availability of various tools designed for this purpose, each has limitations, indicating a need for further advancements. We developed a platform that inputs genetic variants, annotates them based on the ACMG/AMP automatic criteria, and presents features such as pathogenicity scores and individual criteria values within a user-friendly interface.