Evolving technologies in medical genetics and genomics

Perspectives on the future of dysmorphology

“…Clinical genetics and genomics continues to evolve-for many in the field, this is a major reason why the field is so enjoyable (Slavotinek & Solomon, 2020;Solomon, 2021b). Since the turn of the millennium, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence (in many different ways) have upended the field and offered fascinating new insights and directions (Biesecker & Green, 2014;Gurovich et al, 2019;Hsieh et al, 2022;Jaganathan et al, 2019;Kingsmore et al, 2019;Lander et al, 2001;Poplin et al, 2018;Zhang et al, 2022).…”

Can artificial intelligence save medical genetics?

“…Again, medical genetics has always generated excitement because of the application of new technological advances (Snir et al, 2021; Solomon, 2021). One such advance, which may profoundly alter the face of biomedicine, is the broad realm of artificial intelligence (AI) (Topol, 2019).…”