Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing

Variant allele frequency (VAF) and DCS coverage. In red are the VAFs of the 99 exonic variant counts found in all libraries from younger (58 counts; A) and older donors (41 counts; B) listed in detail in Supplemental Table S1. DCS coverage (gray shaded area) is the median DCS coverage at exonic positions of all libraries within the same age group. (C) Exonic gnomAD variants for FGFR3 with frequencies between 1 × 10⁻⁵ and 1 × 10⁻². (D) Counts of exonic variants associated with tumors (orange) were retrieved from the COSMIC database. The gnomAD and COSMIC variants detected also by DS are shown in red. (IgI-III) Immunoglobulin-like domain I-III, (TM) transmembrane domain, and (TK) tyrosine kinase domain of FGFR3.