Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Genome Medicine
De La Vega, Francisco M FM; Chowdhury, Shimul S; Moore, Barry B; Frise, Erwin E; McCarthy, Jeanette J; Hernandez, Edgar Javier EJ; Wong, Terence T; James, Kiely K; Guidugli, Lucia L; Agrawal, Pankaj B PB; Genetti, Casie A CA; Brownstein, Catherine A CA; Beggs, Alan H AH; Löscher, Britt-Sabina BS; Franke, Andre A; Boone, Braden B; Levy, Shawn E SE; Õunap, Katrin K; Pajusalu, Sander S; Huentelman, Matt M; Ramsey, Keri K; Naymik, Marcus M; Narayanan, Vinodh V; Veeraraghavan, Narayanan N; Billings, Paul P; Reese, Martin G MG; Yandell, Mark M; Kingsmore, Stephen F SF
Publication Date: 2021-10-14
Variant appearance in text: KMT2D: 3228_3230delGAA; Lys1077del
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
Npj Genomic Medicine
Sweeney, Nathaly M NM; Nahas, Shareef A SA; Chowdhury, Shimul S; Batalov, Sergey S; Clark, Michelle M; Caylor, Sara S; Cakici, Julie J; Nigro, John J JJ; Ding, Yan Y; Veeraraghavan, Narayanan N; Hobbs, Charlotte C; Dimmock, David D; Kingsmore, Stephen F SF
Publication Date: 2021-04-22
Variant appearance in text: KMT2D: 3228_3230delGAA; Lys1077del