Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole-genome sequencing (WGS) has the potential to more...

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Sparad:
Bibliografiska uppgifter
I publikationen:PLoS Genet
Huvudupphovsmän: Monlong, Jean, Girard, Simon L., Meloche, Caroline, Cadieux-Dion, Maxime, Andrade, Danielle M., Lafreniere, Ron G., Gravel, Micheline, Spiegelman, Dan, Dionne-Laporte, Alexandre, Boelman, Cyrus, Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy, Minassian, Berge A., Bourque, Guillaume, Cossette, Patrick
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2018
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5978987/
https://ncbi.nlm.nih.gov/pubmed/29649218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007285
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