Genetics and genomics of human sperm production

Male gametogenesis is a fascinating biological system which offers numerous research opportunities at the intersection of medicine, evolution, and genome biology. In this seminar I will discuss our ongoing work to develop genome sequencing into a useful diagnostic assay for the clinical management of male infertility. This work has inspired the development of novel statistical approaches to identify potential disease causing genotypes from n=1 cases of infertility, as well as novel experimental methods to validate these variants in vivo.