True fraction of loci with phenotypic effects on life expectancy, fertility, pregnancy, and miscarriage

Determine the genome-wide fraction of human loci whose variation produces phenotypic effects on life expectancy, fertility, probability of pregnancy, and miscarriage rate, in order to parameterize the chromosome map used by the HERITAGE simulations with biologically grounded values rather than assumed proportions.

Background

To model phenotypic effects, the HERITAGE code requires specifying which loci affect life expectancy, fertility, pregnancy chances, and miscarriage rate. In the simulations, the authors set 3.5% of loci to have phenotypic effects as a pragmatic choice to match expected radiation risk figures.

However, the authors note that the true percentage of loci influencing these traits is not currently established because many candidate genes remain to be validated experimentally. Establishing this fraction would enable more realistic initialization and calibration of HERITAGE and similar simulations.