Contact

The complete Imputation Server source code is available on GitHub. Feel free to create issues and pull requests. Before contacting us, please have a look at the FAQ page first.

Please contact the helpdesk in case of other questions or issues.

TOPMed Imputation Server Team

TOPMed Imputation Server provides free genotype imputation for the TOPMed reference panel. You can upload phased or unphased GWAS agenotypes and receive phased and imputed genomes in return. For uploaded data sets an extensive QC is performed. * Please consult the FAQ first for answers to common questions * Helpdesk (use this address for all inquiries) * Albert Smith * Andrew Boughton * Gonçalo Abecasis

Imputation engine: Minimac4

Minimac4 is a lower memory and more computationally efficient implementation of the genotype imputation algorithms in minimac/mininac2/minimac3.

Cloud framework: Cloudgene

Cloudgene is a framework to build Software As A Service (SaaS) platforms for data analysis pipelines. By connecting command-line programs, scripts or Hadoop applications to Cloudgene, a powerful web application can be created within minutes. Cloudgene supports the complete workflow including data transfer, program execution and data export. Cloudgene is developed at the Division of Genetic Epidemiology Innsbruck in cooperation with the Center for Statistical Genetics, University of Michigan.

Phasing engine: Eagle2

For haplotype phasing Eagle2 is used. Eagle2 attains high accuracy across a broad range of cohort sizes by efficiently leveraging information from large external reference panels (such as the Haplotype Reference Consortium; HRC).