Lecturer: Anders Poulsen Charmouh, Bioinformatics Research Centre, AU.

Abstract: Crossover and non-crossovers (NCOs) are important recombination mechanisms with several effects on both the population and the individual level. They can contribute to genetic diversity by generating new combinations of alleles, cause de novo mutations due to the mutagenic effect of recombination, result in genetic disease, effect the rate of adaptation, and even counteract the mutation load by reverting germline mutations through GC-biased gene conversion. A subset of NCO events convert a SNP, resulting in a gene conversion event. Here, we show that gene conversion and crossover events can be called directly from HiFi PacBio sequencing data, without using trio data or breeding experiments. Furthermore, we estimate properties of gene conversions by developing a model which only requires data from a single individual genome, and can be used without necessitating any demographic assumptions about the sampled population. We use this model to estimate key quantities such as the NCO rate and tract length and show that very few percent of all NCOs are observable as gene conversions.

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