Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M. De La Vega, S. Chowdhury, Barry Moore, E. Frise, J. McCarthy, E. Hernandez, Terence Wong, Kiely N. James, L. Guidugli, P. Agrawal, C. Genetti, C. Brownstein, A. Beggs, B. Löscher, A. Franke, B. Boone, S. Levy, K. Õunap, S. Pajusalu, M. Huentelman, K. Ramsey, M. Naymik, V. Narayanan, N. Veeraraghavan, P. Billings, M. G. Reese, M. Yandell, S. Kingsmore
Genome Medicine