Genetic analyses within the German National Cohort (NAKO) currently include genotyping of the entire cohort as well as whole genome sequencing (WGS) of a subpopulation of 25,000+ participants. NAKO’s genetic data is expected to be available for researchers from 2027 onwards.
Since genetic information is unique to each individual and permanently linked to a person, it is considered particularly sensitive personal data within the meaning of the GDPR and is therefore subject to a particularly high level of protection.
Genetic data is stored separately from other study data in the German Human Genome Phenome Archive (GHGA) infrastructure on local servers at up to seven locations: at the German Cancer Research Centre (DKFZ) in Heidelberg, at the University of Tübingen, at the Technical Universities in Munich and Dresden (TUM and TUD), at the University of Cologne and in Berlin, where the infrastructure is jointly operated by the Max Delbrück Centre (MDC) and the Berlin Institute of Health (BIH) at the Charité. Access to the data will be given via a SPE – Secure Processing Environment (Trusted Research Environment), which is currently being developed in collaboration with GHGA.
Genotyping
The NAKO Genotype project comprises the genotyping of the entire NAKO cohort of 200,000 participants, characterizing them with genome-wide variation in single nucleotide polymorphisms (SNPs). Genotyping based on DNA sequences using array technologies makes it possible to detect small genetic differences (SNPs and copy number variations) that can lead to major changes in phenotypes. Genotypes are essential for population-based preventive assessments of inherited disease predisposition and for Mendelian randomization analyses to establish causality. Most importantly, these data enable the assessment of gene-environment interactions and promote important steps toward individualized prevention.
Measurements: The NAKO genotype project is a collaboration of the academic genotyping centers of Helmholtz Munich, the University Bonn and University Hospital Schleswig-Holstein (UKSH) Kiel. NAKO uses a customized chip based on the Illumina GSA V4 array, which includes an imputation backbone incl. a special EUR booster and 44k custom SNPs from the NAKO disease specific experts and geneticists.
Whole genome sequencing (WGS)
Whole genome sequencing captures the complete genetic blueprint of an individual. Within NAKO, this information provides an unprecedented opportunity to explore how genetic variation contributes to health, disease risk, and the interaction with lifestyle and environmental factors. By generating such a comprehensive data set, NAKO not only strengthens population-based health research but also creates a valuable resource to support the development of new preventive strategies, diagnostics, and therapeutic approaches.
NAKO-Helmholtz Association-WGS project
The NAKO-Helmholtz Association-WGS project — a Helmholtz Health Initiative — will sequence at least 15,000 NAKO biosamples in core facilities at four Helmholtz centers (Helmholtz Munich, DKFZ, MDC, Helmholtz Centre for Infection Research (HZI) using the Illumina NovaSeq platform. Bioinformatic quality control and data analysis will be performed at Helmholtz Munich. The sequencing data is expected to be available for researches mid-2026.
Genome of Europe (GOE)
NAKO e.V. is participating as a national partner with a participant cohort in the European project ‘Genome of Europe’ (GoE). Embedded in the European 1+ Million Genomes (1+MG) Initiative, the project’s goal is to build a collective reference genomic dataset of European citizens, selected to mirror the genetic variety of the European population. The joint effort of 27 European countries is funded by the European Union (grant #101168231), with 50 percent co-funding for the German project costs by the Federal Ministry of Research, Technology and Space (BMFTR). The GoE project brings together diverse expertise to establish a European reference database comprising a total of 100,000 whole genome sequences. The underlying biospecimens were collected within the framework of population-based cohorts and clinical studies, including 10,000 genome sequences from NAKO participants. By contributing to this European endeavor, NAKO e.V. fosters international collaboration in genomic research and enables large-scale analyses to advance precision medicine and public health.
