Article
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2026
Rajagopalan Ananya, Nguyen Tram Anh, Guare Lindsay A, Rico Andre Luis Garao, Venkatesh Rasika, Caruth Lannawill, Genetics Center Regeneron, Medicine BioBank Penn, Verma Anurag, Ritchie Marylyn D, Hall Molly A, Romano Joseph D, Setia-Verma Shefali
Abstract excerpt
Multi-omics data are instrumental in obtaining a comprehensive picture of complex biological systems. This is particularly useful for women's health conditions such as endometriosis, which has been historically understudied despite having a high prevalence (around 10% of women of reproductive age). Subsequently, endometriosis has limited genetic characterization: current genome-wide association studies explain...
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