idw – Informationsdienst Wissenschaft
Nachrichten, Termine, Experten
Nachrichten, Termine, Experten
idw - Informationsdienst
Wissenschaft
Helmholtz Munich launches the Helmholtz Munich Imputation Server, providing an imputation service for researchers based in the European Union (EU) and beyond. Imputation, the statistical inference of unobserved genotypes, is essential for genetic analyses and requires uploading raw genotype data. However, because genetic data are classified as a special category under the EU General Data Protection Regulation (GDPR), using servers located outside the EU or in countries lacking adequacy agreement is prohibited. The Helmholtz Munich Imputation Server is therefore a key platform for thousands of researchers in the EU and worldwide.
Genome-wide association studies typically start by directly assaying the genotype of a few hundreds of thousands of sequence variants, followed by imputation to obtain information on millions of additional genetic variants. This affords genetic studies significantly enhanced power. 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.
Rayner et al. (2024): Toward GDPR compliance with the Helmholtz Munich genotype imputation server. Nature Genetics. DOI: 10.1038/s41588-024-02012-1
http://imputation.helmholtz-munich.de For more information about the Helmholtz Munich Imputation Server, visit the official website
http://imputationserver-doc.readthedocs.io For any questions, go to the Helmholtz Munich Imputation Server help page
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