PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
PhenoScore 通过结合面部分析和其他临床特征，利用机器学习框架量化罕见遗传疾病的表型变异。
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-023-01469-w
Dingemans, Alexander J M; Hinne, Max; Truijen, Kim M G; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J; den Hoed, Joery; de Boer, Elke; Coenen-van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W; Jonis, Noraly; Ockeloen, Charlotte W; Vulto-van Silfhout, Anneke T; Kleefstra, Tjitske; Koolen, David A; Campeau, Philippe M; Palmer, Elizabeth E; Van Esch, Hilde; Lyon, Gholson J; Alkuraya, Fowzan S; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J; Santen, Gijs W E; Kooy, R Frank; van Gerven, Marcel A J; Vissers, Lisenka E L M; de Vries, Bert B A
