The GREGoR Consortium regularly contributes data to several resources that support rare disease research, described below.
| Tool | GREGoR Variant Browser | ClinVar | Gene Curation Coalition (GenCC) Database | Matchmaker Exchange (MME) | AnVIL tools and workflows |
|---|---|---|---|---|---|
| Description | A web-based GREGoR genomic variant browser | A database that aggregates information about genomic variation and its relationship to human health (e.g. diseases, drug responses) | A database of gene-disease validity curations | A federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) | AnVIL provides a controlled-access environment for interactive and computational workflow-based analysis of the hosted GREGoR Dataset |
| Example use case(s) | Clinicians, researchers, and other users search for variants of interest in the GREGoR WGS1 data. The Variant Browser supports filtering variants by quality, and export of variant lists. | Clinicians, researchers, and other users search DNA or protein locations for reports of human variations classified for diseases and drug responses. | Researchers and clinicians search curated genes of interest for disease associations. | Clinicians or labs deposit cases to query MME databases. Individual patients and families share genetic and health information to identify others with similar profiles. | Researchers analyze individual- and multi-sample level molecular data in AnVIL workspaces. |
| Database query type | Coordinates or gene | Coordinates, gene, disease/phenotype, submitter, study name, and/or PubMed ID; see all available search fields | Gene, disease, and/or submitter | Case matching; see table of data types |
GREGoR data is organized in tables within AnVIL workspaces as defined by the GREGoR Consortium Data Model |
| Learn more | WGS reprocessing methods documentation | ClinVar About page | GenCC About page; GenCC paper | MME paper | AnVIL Resources | GREGoR Consortium |
| GREGoR status | The GREGoR Variant Browser enables searching of variants in the GREGoR Dataset. | GREGoR is contributing to ClinVar, as identified by the study name "GREGoR Consortium". View GREGoR submissions. | GREGoR RCs2 are among the contributing Members of the GenCC Network. | GREGoR RCs2 are among the Exchange Participants submitting to MME. | AnVIL is the primary repository of GREGoR data. |
| Availability | Freely accessible | Freely accessible | Freely accessible | Restricted to Exchange Participants | Controlled access; researchers from the scientific community can apply for access to GREGoR data |
- WGS: Whole Genome Sequencing
- RCs: Research Centers