Over the past decade, genetic epidemiology studies have progressed from studying single genetic variants in candidate genes to investigating millions of common genetic variants in genome-wide association studies (GWAS). A paradigm shift in human genetics is currently taking place towards genome-wide rare variant association studies, gene-gene (GxG) and gene-environment (GxE) interaction studies. However, the explosive growth of genetic data presents enormous challenges for future genome-wide association studies with great demands on computational resources and data management infrastructures. Current studies often employ sample sets of several 10k and sometimes even >100k samples and using the latest imputation references results in over 30 million genotypes per sample.
Within the German Bioinformatic Network de.NBI, this service project provides guidance for planning (and execution) of SNP array genotyping and hands-on support for large-scale quality control, variant annotation and association analysis of GWAS data. Our expertise and work experience gathered from >90 GWAS and custom array studies in the past 10 years will allow scientists from different disciplines to study genetic factors efficiently and standardized.