Given the excessive sequencing depth required in DS, in this work we focused on the coding region of FGFR3 because (1) this gene has well-characterized PAE mutations; (2) various reported DNMs associated with congenital disorders have incidence levels that fall within the sensitivity of DS (for reviews, see Goriely et al. 2009; Goriely and Wilkie 2012; Shinde et al. 2013; Maher et al. 2018); and (3) FGFR3 has been categorized as an oncogene with many missense mutations and high oncogenic score (Tomasetti and Vogelstein 2015). The gene discussed is FGFR3; the disease is Dravet syndrome.