Rare variant alleles in the light of the neutral theory

Abstract

Based on the neutral theory of molecular evolution and polymorphism, and particularly assuming 'the model of infinite alleles,' a method is proposed which enables us to estimate the fraction of selectively neutral alleles (denoted by P(neut)) among newly arisen mutations. It makes use of data on the distribution of rare variant alleles in large samples together with information on the average heterozygosity. The formula proposed is P(neut) = [H̄(e)/(1 - H̄(e))] [log(e)(2n̄q)/n̄(a)(x