Combining polygenic risk scores with rare variant data has potential to refine diagnostic accuracy and improve genetic counseling.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #DEE #genetics #penetrance #polygenic #PRS

" #Penetrance in genetics is the proportion of individuals carrying a particular variant (or #allele) of a gene ( #genotype) that also expresses an associated trait ( #phenotype)."

It's one of the mechanisms for "it skips a generation" traits.