Microarray- and Sequencing Studies

From 2012 to 2017, we have conducted the project "Statistical Methods for the Assessment of Genetic Variants in Microarray and Sequencing Studies" founded by the Deutsche Forschungsgemeinschaft.

Variations in the human genome can substantially influence the risk of developing a disease. Therefore, numerous genetic association studies are concerned with single nucleotide polymorphisms (SNPs), the most common type of such genetic variants. While huge prespecified subsets of all SNPs in the genome can be measured with microarrays, the latest developments in biotechnology enable the sequencing of the whole genome or specific DNA regions, and hence, the measurement of all known SNPs in these regions as well as the detection of previously unknown, often rarely occurring genetic variants. When testing these SNPs for association with disease, typically only the form/genotype of the SNP is considered, although much more information exists for each SNP.

The major goal of this research group was to develop statistical procedures for the most common types of association studies that allow the inclusion of all available information on the SNPs from the study at hand and from previous studies, which might lead to a better assessment of the effect of a SNP on the disease risk. Further goals were to devise statistical methods for the detection of complex combinations of (common) SNPs and rare variants associated with disease in studies (such as exome sequencing studies) comprising tens of thousands of common and rare variants, and for the assessment of the joint effect of genetic variations belonging to the same gene as well as statistical procedures enabling an integrative analysis of SNPs and other types of genetic markers.