Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette J. McCarthy, Edgar Javier Hernandez, Terence C. Wong, Kiely N. James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, André Franke, , Stephen Francis Kingsmore
GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.
Genome Medicine · Oct 13, 2021Peer-reviewedGenetic & Genomic Medicine