For the second consecutive year, the exceptional circumstances of the global pandemic resulted in the annual European Society of Human Genetics (ESHG) conference being held as a virtual meeting. An interactive virtual platform was arranged, where participants could move from the e-Posters to the sponsors' page or to the on-demand sessions, with a chat tool making networking possible. Over 1,500 posters and 200 oral sessions were presented and, as in previous editions, workshops and educational sessions were held. This report aims to cover a selection of studies presented over the course of the conference.