Deviations from hardy-weinberg equilibrium in parental and unaffected sibling genotype data.

ABSTRACT:

Background

Genotyping error can increase both type I and II errors. In order to elucidate potential genotyping errors, data quality control often includes testing genotype data for deviations from Hardy-Weinberg Equilibrium (HWE).

Methods

The Hardy-Weinberg Disequilibrium (HWD) coefficient and the ability to reject the null hypothesis of HWE were calculated analytically for genotype data from parents and unaffected siblings of affected probands.

Results

Genotype data from parents and unaffected siblings display deviations from HWE when functional or markers in LD with functional locus are tested. For the parental genotype data all deviations from HWE are negative, indicating an excess of heterozygous genotypes with the strongest deviations from HWE observed for the mu

SUBMITTER: Li B 

PROVIDER: S-EPMC2798818 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature