Family-based association tests using genotype data with uncertainty.

ABSTRACT: Family-based association studies have been widely used to identify association between diseases and genetic markers. It is known that genotyping uncertainty is inherent in both directly genotyped or sequenced DNA variations and imputed data in silico. The uncertainty can lead to genotyping errors and missingness and can negatively impact the power and Type I error rates of family-based association studies even if the uncertainty is independent of disease status. Compared with studies using unrelated subjects, there are very few methods that address the issue of genotyping uncertainty for family-based designs. The limited attempts have mostly been made to correct the bias caused by genotyping errors. Without properly addressing the issue, the conventional testing strategy, i.e. family-based

SUBMITTER: Yu Z 

PROVIDER: S-EPMC3297829 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature