Research Group Next-Generation Sequencing

The identification of pathogenic genetic variants is a basic tool to discover the principals of inherited or acquired diseases. Progress in sequencing technologies over the last decade enables to sequence a patients genome or exome within several days. We provide assistance in study design, prepare the sequencing libraries starting from blood or customer isolated DNA/RNA in an automated high throughput manner and perform sequencing as 100 bp PE run on the Illumina HiSeq2000 and HiSeq2500. Beside whole genome or whole exome analysis, we perform whole transcriptome sequencing for expression studies as well as chromatin immunoprecipitation (ChIP) sequencing to identify interactions between DNA and proteins. Data analysis is accomplished using publicly available tools and custom scripts due to our bioinformatic unit. The in-house variant database with more than 5.000 samples enables precise filtering of the identified variant using project specific criteria and provides control genotypes.