Last week I attended the collaborative kick-off for 3 grants a U41 (Unified Clinical Genomics Database) to support ClinVar annotation and two coordinating U01 CRVR (Clinically relevant variants resource) grants. The work proposed involved coordinating and supporting the variant annotation from clinical labs, and providing the infrastructure and resources to make the data useful to a variety of community users. For example, the resource will be used for population genetics studies and as a knowledge base to support clinical decision support. On top of the scientific and informatics questions, there are also ethical considerations for such a repository such as re-identification of individuals from published studies. There are many interesting bioinformatics and ontology challenges arising from these projects.
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