Computer-assisted initial diagnosis of rare diseases

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 to patients suffering from the relevant disease. It is thus important to de...

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Bibliographic Details
Main Authors: Rui Alves, Marc Piñol, Jordi Vilaplana, Ivan Teixidó, Joaquim Cruz, Jorge Comas, Ester Vilaprinyo, Albert Sorribas, Francesc Solsona
Format: Article
Language:English
Published: PeerJ Inc. 2016-07-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/2211.pdf