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...

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Detalles Bibliográficos
Autores principales: Traynelis, Joshua, Silk, Michael, Wang, Quanli, Berkovic, Samuel F., Liu, Liping, Ascher, David B., Balding, David J., Petrovski, Slavé
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Method
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

Internet

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

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