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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Detalles Bibliográficos
Autores principales: Alves, Rui, Piñol, Marc, Vilaplana, Jordi, Teixidó, Ivan, Cruz, Joaquim, Comas, Jorge, Vilaprinyo, Ester, Sorribas, Albert, Solsona, Francesc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2016
Materias:
Bioinformatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963223/
https://www.ncbi.nlm.nih.gov/pubmed/27547534
http://dx.doi.org/10.7717/peerj.2211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963223/
https://www.ncbi.nlm.nih.gov/pubmed/27547534
http://dx.doi.org/10.7717/peerj.2211

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