Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
利用人工智能驱动的基因型-表观基因型-表型方法解决综合征诊断难题
期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2025.105677
Mak, Christopher C Y; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K; Pisan, Elise; Chui, Martin M C; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C; Sanchez-Lara, Pedro A; Bombei, Hannah M; Bernat, John A; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clémence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E; Gordon, Christopher T; Doherty, Dan; Krawitz, Peter M; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H Y