Ruth Ottman

1 month ago | onlinelibrary.wiley.com | Colin Ellis |Ruth Ottman |Michael Epstein |Samuel F Berkovic

We calculated polygenic risk scores for genetic generalized epilepsy (GGE_PRS) and for focal epilepsy (Focal_PRS) in individuals from 257 multiplex epilepsy families. Families with both generalized and focal epilepsies were partly explained by the chance co-occurrence of distinct genetic risk alleles. Phenotypic heterogeneity within families was partly explained by the relative burden of risk alleles for genetic generalized epilepsy.

Aug 20, 2024 | cell.com | Colin Ellis |Karen Oliver |Rebekah Harris |Ruth Ottman

Summary Polygenic risk scores (PRSs) are an important tool for understanding the role of common genetic variants in human disease. Standard best practices recommend that PRSs be analyzed in cohorts that are independent of the genome-wide association study (GWAS) used to derive the scores without sample overlap or relatedness between the two cohorts.