Effect size concurence
January 8, 2018
Deviations from additivity
February 23, 2018

Regulatory and Coding Interactions

Recent work in Tuuli Lappalainen’s lab has shown that deleterious coding variants, when heterozygous, are found disproportionately on down regulated haplotypes when looking at allele specific expression. This indicates that the the penetrance of coding variation is modified by allele specific expression.

In this work I take this observation an incorporate it into a population genetics model to investigate the long term effects of repeated independent deleterious mutations arising on haplotypes subject to allele specific expression. The goal is to determine if the penetrance modified by allele specific expression leads to an over-abundance of deleterious coding variation occurring on down regulated haplotypes.