Genetic & Genomic MedicinePacific Symposium on Biocomputing (PSB)Peer-reviewed
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs
Ananya S. Rajagopalan, Tram Anh Thi Nguyen, Lindsay A. Guare…·Shefali Setia-Verma
DRIVE-KG integrates multi-omics data into a knowledge graph to discover SNP-phenotype associations and predict endometriosis status, uncovering new variant-phenotype links and improving classification performance.
DOI 10.1142/9789819824755_0060