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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal variants identified among a growing list of disease genes. The cha...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630035/ https://www.ncbi.nlm.nih.gov/pubmed/28864458 http://dx.doi.org/10.1101/gr.226589.117 |