Impact of genotyping errors on statistical power of association tests in genomic analyses: A case study.

ABSTRACT: A key step in genomic studies is to assess high throughput measurements across millions of markers for each participant's DNA, either using microarrays or sequencing techniques. Accurate genotype calling is essential for downstream statistical analysis of genotype-phenotype associations, and next generation sequencing (NGS) has recently become a more common approach in genomic studies. How the accuracy of variant calling in NGS-based studies affects downstream association analysis has not, however, been studied using empirical data in which both microarrays and NGS were available. In this article, we investigate the impact of variant calling errors on the statistical power to identify associations between single nucleotides and disease, and on associations between multiple rare variants an

SUBMITTER: Hou L 

PROVIDER: S-EPMC5604789 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature