Mutational processes in spermatogenesis and their consequences for human health
Most novel mutations arise in the testes when sperm cells are produced and can cause severe psychological disorders in the offspring. It is now possible to map novel mutations that a prospective father is likely to pass on by sequencing the DNA in his sperm, but the interpretation of such data is still difficult. We plan to design a mathematical framework to understand why, how and when novel mutations arise in the testis and to use this insight to design powerful tools that can predict the risk of passing on new harmful mutations by sequencing sperm. We are a group of scientists with proven expertise in mathematical modelling, mutation detection, statistical genetics, genomics and artificial intelligence, teaming up with leading clinical investigators in male reproduction. We envision that the mathematical framework can be applied to prospective fathers at risk of passing on novel mutations and thereby prevent severe disorders from developing in the next generation.