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    • Computer-assisted initial diagnosis of rare diseases 

      Alves, Rui; Piñol, Marc; Vilaplana, Jordi; Teixidó Torrelles, Ivan; Cruz, Joaquim; Comas, Jorge; Vilaprinyo Terré, Ester; Sorribas Tello, Albert; Solsona Tehàs, Francesc (PeerJ, 2016)
      Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed ...