Data Release - GREGoR Consortium

The second data release from the GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) is now available on AnVIL for controlled access by the broader scientific community. Additionally, the GREGoR Consortium has developed a publicly available open-access variant browser that enables searches for variants of interest across the Consortium joint, short-read whole genome callset.

The GREGoR Consortium has assembled a dataset of broad utility. All participants are broadly consented for General Research Use or Health, Medical, or Biomedical research. The Consortium data aligns with the GREGoR Data Model, designed to provide context and information to support analysis and secondary use of the data. Additional documentation, including how to apply for access, is available on the GREGoR Consortium’s Data webpage.

This second data release consists of 7,394 participants and more than 3,000 families. For these participants, the GREGoR Consortium Dataset includes family, pedigree and phenotype information. Genomic data such as short-read DNA and RNA sequencing data is available for the majority of GREGoR participants (see table below). The GREGoR Dataset also includes candidate genetic findings identified by participating GREGoR Research Centers. In this release, a subset of short-read whole genome sequencing data is uniformly processed by the GREGoR Data Coordinating Center which is used to generate a Consortium joint callset for small variants (SNVs and Indels).

Available Data

Acknowledgements and attribution

The GREGoR Acknowledgements and attribution statement is available at the dbGaP study page. You can learn more about GREGoR at https://gregorconsortium.org/