Quality Management

Coordinator:    Prof. Dr. Sylvia Hofmann
Institution: Institut für Klinische Molekularbiologie
The identification of genetic factors involved in complex diseases is based on the establishment of reliable links between phenotypic and genotypic data of the patients. Therefore the access to large resources of genotyping and sequencing capacities as well as systematic data processing and analysis are fundamental. As the network’s scientific approach is dominated by its focus on systematic positional cloning of susceptibility genes, the NGFN-subproject T1 aim to provide a high-throughput methodical platform for a cost- and time efficient follow-up of novel candidate genes identified by the current GWAS inside the IG.

Platform elements are:
A)    Automated DNA extraction and sample storage (popgen biobank)
B)    High-throughput genotyping: a highly automated genotyping platform was established as part of the national genotyping platform (NGFN2) and is used by most of the IG collaborators
C)    Sanger sequencing: resequencing of candidate regions with high LD can be performed efficiently on a grand scale using 96-capillary sequencers (Applied Biosystems)
D)    DNA library preparation for massive parallel sequencing (MPS) systems
E)    MPS: we are going to set up an ultra-high throughput (UHT) sequencing platform based on two complementary 2nd generation sequencing systems  (FLX by Roche and SOLiD by Applied Biosystems) that allow systematic re-sequencing of putative disease loci in large sample sets
F)    Copy number variation (CNV) genotyping/analysis: a bioinformatic analysis and CNV replication pipeline will be set up for a CNV specific analysis und follow-up of the GWAS data sets generated during NGFN2
G)    Methylation pattern detection: we are going establish a platform for studies of genome wide  methylation and expression patterns
H)    Genotype and sequence data management: individual project data generated by different collaborators can be quality checked and analyzed by project specific software tools. In addition long-term data storage and backup will be offered.

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