Imputation is a statistical process in which known sequence information from a population in the form of “reference panels” is leveraged to statistically infer unobserved genetic variation in the target dataset, which only includes directly observed genetic variation. To access the latest, large, reference panels (e.g. Haplotype Reference Consortium HRC) an imputation server is required as these data sets cannot be publicly shared and must be used via a controlled access server. Storing and processing of data from EU citizens is restricted to within the EU by the General Data Protection Regulation (GDPR). The Helmholtz Munich Imputation Server leverages freely available open-source software to create a publicly accessible EU imputation server, providing next-generation genotype imputation service to both European and worldwide researchers.
The Helmholtz Munich Imputation Server offers imputation services free of charge and will initially provide several choices for large reference panels, including HapMap Release 2, 1000 Genomes Project Phase 3, and a Haplotype Reference Consortium (HRC) panel. Additionally, there are plans underway to integrate additional reference panels across diverse global populations. In the long term, Helmholtz Munich aims to incorporate additional features for the annotation of uploaded genotype data, further enhancing the server's capabilities. The establishment of the Helmholtz Munich Imputation Server offers researchers a powerful platform for secure genotype imputation and represents a significant milestone for the genetics research community in the EU.
Further Reading
- Helmholtz Munich (15.11.2024): Helmholtz Munich Launches Imputation Server
