Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

BACKGROUND: Exome sequencing is a promising method for diagnosing patients with a complex phenotype. However, variant interpretation relative to patient phenotype can be challenging in some scenarios, particularly clinical assessment of rare complex phenotypes. Each patient’s sequence reveals many p...

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Detalhes bibliográficos
Main Authors: Masino, Aaron J, Dechene, Elizabeth T, Dulik, Matthew C, Wilkens, Alisha, Spinner, Nancy B, Krantz, Ian D, Pennington, Jeffrey W, Robinson, Peter N, White, Peter S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Methodology Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4117966/
https://ncbi.nlm.nih.gov/pubmed/25047600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-248
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