The paper explores using FHIR to integrate genomic research data from multiple repositories and evaluates its effectiveness for structured data representation and aggregation.

bioRxiv · Dec 24, 2025 · PreprintBioinformatics

OpenPBTA: An Open Pediatric Brain Tumor Atlas

Joshua A. Shapiro, Krutika Satish Gaonkar, Stephanie J. Spielman, Candace Savonen, Chanté J. Bethell, Run Jin, Komal S. Rathi, Yuankun Zhu, Laura E. Egolf, Bailey Farrow, Daniel P. Miller, Yang Yang, Tejaswi Koganti, Nighat Noureen, Mateusz Koptyra, , Jaclyn Taroni

OpenPBTA provides a collaborative platform to genomically characterize 1,074 pediatric brain tumors and 22 cell lines, offering analysis modules and somatic datasets for research and clinical applications.

Cell Genomics · May 31, 2023Peer-reviewedGenomics

Uniform Genomic Data Analysis in the NCI Genomic Data Commons

Zhenyu Zhang, Kyle M. Hernandez, Jeremiah H. Savage, Shenglai Li, Daniel P. Miller, Stuti Agrawal, Francisco Manuel Ortuño, Louis M. Staudt, Allison P. Heath, Robert L. Grossman

The paper describes the pipelines and workflows used to process and harmonize genomic data in the NCI Genomic Data Commons, including data types like somatic mutations and gene expression.

Nature Communications · Feb 22, 2021Peer-reviewedBioinformatics