Estimation of DNA contamination and its sources in genotyped samples.

ABSTRACT: Array genotyping is a cost-effective and widely used tool that enables assessment of up to millions of genetic markers in hundreds of thousands of individuals. Genotyping array data are typically highly accurate but sensitive to mixing of DNA samples from multiple individuals before or during genotyping. Contaminated samples can lead to genotyping errors and consequently cause false positive signals or reduce power of association analyses. Here, we propose a new method to identify contaminated samples and the sources of contamination within a genotyping batch. Through analysis of array intensity and genotype data from intentionally mixed samples and 22,366 samples of the Michigan Genomics Initiative, an ongoing biobank-based study, we show that our method can reliably estimate contaminatio

SUBMITTER: Zajac GJM 

PROVIDER: S-EPMC6829038 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature