Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

by Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Published 2020-07-01

User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis

by Conner Jenkins, Troy Jenkins, Thomas N Person, Peter N Robinson, Alanna Kulchak Rahm, Nephi A Walton, Lynn K Feldman, Joeseph Peterson, Jonathon C Reynolds, Makenzie A Woltz, Marc S Williams, Michael M Segal
Published 2021-07-01