Bioinformatics Seminar
Time:
Venue: Na
19 April 2016
NaThe genomic landscape of the male germline at the crossroads between somatic and germline mutational processes
Eleni GiannoulatouVictor Chang Cardiac Research Institute
Selfish spermatogonial selection is a concept that explains the unusual presentation of a group of spontaneous disorders including Apert and Costello syndromes. The causative "selfish" mutations are present at elevated levels in sperm of most men ; with the level of mutations typically increasing with age. Using high-throughput sequencing and novel bioinformatics approaches ; we have quantified the levels in sperm of rare spontaneous mutations causing Costello syndrome and have investigated the spatial occurrence of multiple rare mutations within the testis. Using whole genome sequencing ; we have explored the mechanisms leading to the occurrence of spermatocytic seminoma ; a rare testicular tumour that ; when diagnosed in older men ; is associated to the clonal expansion in the testis due to selection.;Davis Audotorium;