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Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease
Objective: Whole Exome Sequencing (WES) is an effective diagnostic method for complicated and multi-system involved rare diseases. However, annotation and analysis of the WES result, especially for single case analysis still remain a challenge. Here, we introduce a method called phenotype-driven des...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333749/ https://www.ncbi.nlm.nih.gov/pubmed/30687093 http://dx.doi.org/10.3389/fphar.2018.01529 |