The bioinformatics group of the Institute consists of programmers, bioinformaticians, biologists, engineers, mathematicians and system administrators. The main responsibilities of the group are bioinformatic analyses and services in the fields of genome-wide association studies, genome/exome and transcriptome sequencing, copy number variation analysis and de-novo assembly. Further duties include the maintenance and enhancement of an in-house developed LIMS (Laboratory Information and Management System), taking care of data consistency and the provision and maintenance of a high-capacity hardware and network architecture.
Ongoing exemplary research foci are the development of network approaches for variant prioritization, a web-interface for genetic risk score estimations, multi-omics data integration and machine-learning approaches for biomarker development. We here present five exemplary projects in more detail:
- Software migration and optimization for the FPGA system, a specialized ultra-fast computing machine;
- GrabBlur, a novel tool to securely exchange exome data among researchers that facilitates the targeted look-up of candidate mutations in existing data sets;
- GWAS, for both Affymetrix and Illumina genome-wide and custom SNV arrays, we set up a semi-automated GWAS pipeline which combines a collection of state-of-the-art software tools;
- LitDB, a web-based tool for keeping track of papers producted by your institute. It makes it possible for several researchers from an institute to assemble a publication record together so that no paper is missed when writing grant applications;
- snpActs, a database-driven toolset to analyze and categorize SNV data e.g. from whole-exome / -genome sequencing;
- in silico protein 3D modeling to predict candidate variant functions.
All previously developed tools are listed here.