PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

BACKGROUND: We propose a phenotype-driven analysis of encrypted exome data to facilitate the widespread implementation of exome sequencing as a clinical genetic screening test. Twenty test-patients with varied syndromes were selected from the literature. For each patient, the mutation, phenotypic da...

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Detalles Bibliográficos
Autores principales: Trakadis, Yannis J, Buote, Caroline, Therriault, Jean-François, Jacques, Pierre-Étienne, Larochelle, Hugo, Lévesque, Sébastien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030287/
https://www.ncbi.nlm.nih.gov/pubmed/24884844
http://dx.doi.org/10.1186/1755-8794-7-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030287/
https://www.ncbi.nlm.nih.gov/pubmed/24884844
http://dx.doi.org/10.1186/1755-8794-7-22

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