SPDI: Data Model for Variants and Applications at NCBI
J. Bradley Holmes, Eric Moyer, Lon D. Phan, Donna R. Maglott, Brandi L. Kattman
The paper introduces the SPDI data model for normalizing sequence variants and provides tools to convert and normalize variant representations across formats and reference sequences.
Bioinformatics · Nov 15, 2019Peer-reviewedGenomics