Detection of ultra-rare variants in the human male germline

Adaptation of duplex sequencing, an ultra-deep and highly accurate sequencing method to examine a fraction of the FGFR3 coding region in sperm DNA form older and younger donor groups. The ultimate goal is to better understand the mutagenic processes occurring in the human male germline, with the main focus being selfish mutations with frequencies 4-5 times higher than the genome average that can be associated with congenital disorders.