Markers typed in genome-wide analysis identify regions showing deviation from Hardy-Weinberg equilibrium.

ABSTRACT:

Background

Deviations from Hardy-Weinberg equilibrium (HWE) are commonly thought of as indicating genotyping errors, population stratification or some other artefact. However they could also arise through important biological mechanisms. In particular, genetic variants having a recessive effect on the successful fertilisation and/or development of an embryo might be manifest through such deviations in an unselected sample of "control" subjects.

Findings

We investigated genotypes from 463842 autosomal markers from 1504 British subjects. We identified regions in which several neighbouring markers exhibited deviation from HWE in the same direction by considering "heterozygosity scores" in windows of 10 markers. The heterozygosity score for each marker was defined as -log(p) or

SUBMITTER: Vine AE 

PROVIDER: S-EPMC2667528 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature