Location: Plant, Soil and Nutrition Research
Title: Catalyzing Genomic Discoveries: Leveraging rsIDs for Enhanced Trait-Driven Interoperability and Genomic Function TransferAuthor
WEI, SHARON - Cold Spring Harbor Laboratory | |
TELLO-RUIZ, MARCELA - Cold Spring Harbor Laboratory | |
KUMAR, VIVEK - Cold Spring Harbor Laboratory | |
OLSON, ANDREW - Cold Spring Harbor Laboratory | |
CHOUGULE, KAPEEL - Cold Spring Harbor Laboratory | |
Ware, Doreen |
Submitted to: International Symposium on Rice Germplasm Evaluation and Enhancement
Publication Type: Abstract Only Publication Acceptance Date: 9/9/2024 Publication Date: N/A Citation: N/A Interpretive Summary: Technical Abstract: The Reference SNP cluster ID (rsID) serves as a unique identifier for a group of genetic variations (GVs) co-located at a specific position in the genome, facilitating standardized referencing across databases, studies, and publications. While extensively utilized in human research for mutation identification and data integration, its application in plant research has been limited, in part due to insufficient support. However, the maturation of the European Variation Archive (EVA), dedicated to non-human genetic variation data, has led to the assignment of millions of rsIDs to plant genomes, including agriculturally significant ones hosted in Gramene and SorghumBase.This shift allows GVs to be identified by rsIDs rather than being tied to specific assemblies, streamlining information aggregation and marker-based breeding. Gramene capitalized on this opportunity to adopt rsIDs, consolidate scattered GVs knowledge, enhance phenotype prediction and boost trait-based genetic marker discovery. Consequently, Gramene is integrating rsIDs into its databases, linking them to QTL, phenotype, and germplasm data. Currently, four crop genomes have integrated rsIDs: Sorghum (41M), Rice (32M), Maize (78M) and Grape (0.3M). As the number of sequenced pan-genomes increases, computationally calling GVs on each accession's genome becomes impractical. Instead, mapping rsIDs from the reference genome to pan-genomes proves more feasible and efficient. Gramene tested this idea by implementing the variation mapping pipeline from EVA, allowing accurate mapping across different assemblies of the same genome and genomes of different accessions from the same and closely related species. The successful implementation of this method holds unprecedented potential for breeding initiatives. Gramene's efforts are supported by funding from USDA ARS (8062-21000-041-00D). |