American journal of medical genetics. Part C, Seminars in medical genetics
Aug 10, 2023
Virtually all areas of biomedicine will be increasingly affected by applications of artificial intelligence (AI). We discuss how AI may affect fields of medical genetics, including both clinicians and laboratorians. In addition to reviewing the antic...
American journal of medical genetics. Part C, Seminars in medical genetics
Aug 3, 2023
Facial analysis technology in rare diseases has the potential to shorten the diagnostic odyssey by providing physicians with a valuable diagnostic tool. Given that most clinical genetic resources focus on populations of European descent, we compare c...
American journal of medical genetics. Part C, Seminars in medical genetics
Aug 3, 2023
This study focused on the development and initial psychometric evaluation of a set of online, webcam-collected, and artificial intelligence-derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testing and qual...
American journal of medical genetics. Part C, Seminars in medical genetics
Jul 28, 2023
The transition from analog to digital technologies in clinical laboratory genomics is ushering in an era of "big data" in ways that will exceed human capacity to rapidly and reproducibly analyze those data using conventional approaches. Accurately ev...