Fenotype eerst: een datagestuurde benadering van genetische penetrantie

Massively parallel sequencing has long entered clinical care for pediatric and adult nephrology patients, where a genetic etiology is considered after appropriate clinical evaluation.1 However, technological advances in genetic testing have outpaced the capacity to interpret the wealth of genetic data generated. Currently, the pathogenicity of a given variant is assigned to 1 of 5 categories (from “benign” to “uncertain significance” to “pathogenic”) using a framework established by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, integrating population, computational, functional, and segregation data.