| PI | |
|---|---|
| Description |
Advancing AI-readiness of GREGoR data with GA4GH Genomic Knowledge Standards Interpretation of rare genomic variants requires integration of heterogeneous genomic data sources. Clinical and research institutes routinely redesign and reimplement ad hoc methods to harmonize evidence across resources, leading to inconsistent data interpretation, minimal re-use and wasted effort. To address this challenge, the Genomic Knowledge Standards (GKS) work stream of the Global Alliance for Genomics and Health (GA4GH) has coordinated global development of data standards for the representation and integration of genomic evidence, including the GA4GH Variation Representation Specification (VRS). As GA4GH community leads and implementers, we recently developed and deployed a Cohort Allele Frequency (CAF) model for the gnomAD v4 dataset (gnomad.broadinstitute.org/news/2023-11-ga4gh-gks). We will implement tools that apply the CAF model to GREGoR Combined Consortium Dataset, enabling queries of aggregate genotype and phenotype information under a standardized framework. Our goal is to enable sophisticated and semantically integrated reuse of data in compatible workflows and tools, including AI-assisted applications in variant interpretation. |
| Date approved |
|
