Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Background: Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a comprehensive range of biologically informed gene-sets presumed to be implicated in epileptogenesis. Methods: The burden o...

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Bibliographic Details
Main Authors: Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:EBioMedicine
Subjects:
Burden analysis
Ultra-rare variants
Gene-sets
Epilepsy
Exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396421003819

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http://www.sciencedirect.com/science/article/pii/S2352396421003819

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