Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis

A timely diagnosis is a key challenge for many rare diseases. As an expanding group of rare and severe monogenic disorders with a broad spectrum of clinical manifestations, ciliopathies, notably renal ciliopathies, suffer from important underdiagnosis issues. Our objective is to develop an approach...

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Detalles Bibliográficos
Autores principales: Chen, Xiaoyi, Faviez, Carole, Vincent, Marc, Briseño-Roa, Luis, Faour, Hassan, Annereau, Jean-Philippe, Lyonnet, Stanislas, Zaidan, Mohamad, Saunier, Sophie, Garcelon, Nicolas, Burgun, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993144/
https://www.ncbi.nlm.nih.gov/pubmed/35401179
http://dx.doi.org/10.3389/fphar.2022.786710

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993144/
https://www.ncbi.nlm.nih.gov/pubmed/35401179
http://dx.doi.org/10.3389/fphar.2022.786710

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