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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| 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 |