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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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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2014
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| Onderwerpen: | |
| Online toegang: | 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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