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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
OBJECTIVE: The Epilepsy Genetics Initiative (EGI) was formed in 2014 to create a centrally managed database of clinically generated exome sequence data. EGI performs systematic research‐based reanalysis to identify new molecular diagnoses that were not possible at the time of initial sequencing and...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519344/ https://www.ncbi.nlm.nih.gov/pubmed/30951195 http://dx.doi.org/10.1111/epi.14698 |