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: Alves, Rui, Piñol, Marc, Vilaplana, Jordi, Teixidó, Ivan, Cruz, Joaquim, Comas, Jorge, Vilaprinyo, Ester, Sorribas, Albert, Solsona, Francesc
Format: Online
Language:English
Published: PeerJ Inc. 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963223/