| PI | |
|---|---|
| Description |
In this project, laboratories at Children’s Mercy Kansas City (CMKC) led by PI Dr. Pastinen will collaborate with NHGRI staff and GREGoR investigators to integrate multiomic data between Genomic Answers for Kids (GA4K) and GREGoR datasets (on-going and historic), update data in GA4K AnVIL workspaces to include all metadata (pedigree, clinical and experimental) and engage GREGoR DAC to consider model establishment for additional analytes not yet present in GREGoR (e.g. single nuclei multiomes, or long-read RNA). The harmonization of data will contribute to new standards development for rare disease studies and immediately allows for greater power discovery resources for rare disease governed by NHGRI, particularly in emerging fields of disease genomics, such as long-read sequencing. |
| Date approved |
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