A Genome-First Approach to Characterize <i>DICER1</i> Pathogenic Variant Prevalence, Penetrance, and Phenotype

Abstract

This cohort study was able to ascertain individuals with germline DICER1 variants based on a genome-first approach rather than through a previously established DICER1-related phenotype. Use of the genome-first approach may complement more traditional approaches to syndrome delineation and may be an efficient approach for risk estimation.