Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Abdulrahman H Al AnaziAhmed S AmmarMahmoud Al-HajjCyril CyrusDanah AljaafariIname KhodaAhmed K AbdelfatahAbdullah A AlsulaimanFiras AlanaziRawan AlanaziDivya GandlaHetal LadSamar BarayanBrendan J KeatingAmein K Al-Ali

Published in: Human genomics (2022)

Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.

Keyphrases

genome wide
genome wide association study
genome wide association
copy number
dna methylation
gene expression
human health
climate change
drug induced