Fig. 1. Parallel multistep workflow for diagnostic setting. Left side (first approach): development and application of an in-silico hotspot for previously reported PVs; right side (second approach): in-silico filtering and in-vitro analysis of unknown variants.
Abbreviations: PVs, pathogenic variants; IGV, Integrative Genomics Viewer; ACMG, American College of Medical Genetics and Genomics.

Ann Lab Med 2025;45:96~100 https://doi.org/10.3343/alm.2024.0201