Annotation and curation of human genomic variations (2018-Variations)

This implementation study aims to understand the existing infrastructure, resources and protocols for human genome variation annotation and curation. Work focuses on processes that can be automated to support interpretation of high-throughput genome sequencing results. The outcome will be a report that describes the current status within ELIXIR member states, identified requirements and potential solutions. The report will be part of the ELIXIR Human Genomics and Translational Data Services strategy and roadmap.

This project coordinates with ELIXIR Data Platform on surveys regarding data archives and other resources. It also consults with Compute and Tools Platforms on potential models for resourcing, scaling and providing portable tools based on the identified requirements for running data analysis workflows. The aim is also to work in close collaboration with the ELIXIR Interoperability Platform to understand the future requirements on managing variation annotation and their interpretation.

This implementation study will also aim to support the coordination between ELIXIR Human Genomics and Translational Data use case and the relevant GA4GH technical work streams. The expected outcome is a better alignment of ELIXIR activities with those in the GA4GH and direct communication with relevant resources outside of ELIXIR such as ClinVar.


1 June 2018 to 30 November 2019

Nodes involved: 


People involved: 

Ilkka Lappalainen
Eivind Hovig