Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Rare alleles and selection.

A subpopulation D of rare alleles is considered. The subpopulation is part of a large population that evolves according to a Moran model with selection and growth. Conditional on the current frequency, q, of the rare allele, an approximation to the distribution of the genealogy of D is derived. In particular, the density of the age, T(1), of the rare allele is approximated. It is shown that tim...

Flow from Rare Alleles

In order to assess the evolutionary significance of molecular variation in natural populations of Drosophila melanogaster, we have started a comprehensive genetic variation study program employing a relatively large number of gene-protein loci and an array of populations obtained from various geographic locations throughout the world. In this first report we provide estimates of gene flow based...

Rare variant alleles in the light of the neutral theory.

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 Pneut) 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 het...

Editorial: “Disease-Only” alleles and genotypes in complex disorders?

variant toll-like receptor4 (asp299gly and thr399ile alleles) and toll-like receptor2 (arg753gln and arg677trp alleles) in colorectal cancer

the innate immune system recognizes the presence of bacterial products through the expression of a family of membrane receptors known as toll-like receptors (tlrs). polymorphisms in tlrs have been shown to be associated with increased susceptibility to diseases such as inflammatory bowel disease. the aim of this study was to determine whether there was a correlation between polymorphisms of tlr...