Cardiogenetics and Artificial Intelligence: the Mutscore Algorithm

por Porretta, A P, Pavlidou, D, Atallah Gonzalez, M I, Unger, S, Rivolta, C, Monney, P, Pruvot, E, Superti-Furga, A
Publicado 2023

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

por Perea-Romero, I., Blanco-Kelly, F., Sanchez-Navarro, I., Lorda-Sanchez, I., Tahsin-Swafiri, S., Avila-Fernandez, A., Martin-Merida, I., Trujillo-Tiebas, M. J., Lopez-Rodriguez, R., Rodriguez de Alba, M., Iancu, I. F., Romero, R., Quinodoz, M., Hakonarson, H., Garcia-Sandova, Blanca, Minguez, P., Corton, M., Rivolta, C., Ayuso, C.
Publicado 2021