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Authors

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Contact information

^Lead Contact: Jo Lynne Rokita rokita@chop.edu

✉Correspondence: Jo Lynne Rokita rokita@chop.edu, Jaclyn N. Taroni jaclyn.taroni@ccdatalab.org

In Brief

The OpenPBTA is a global, collaborative open-science initiative which brought together researchers and clinicians to genomically characterize 1,074 pediatric brain tumors and 22 patient-derived cell lines. Shapiro, et. al create over 40 open-source, scalable modules to perform cancer genomics analyses and provide a richly-annotated somatic dataset across 58 brain tumor histologies. The OpenPBTA framework can be used as a model for large-scale data integration to inform basic research, therapeutic target identification, and clinical translation.

Highlights

OpenPBTA collaborative analyses establish resource for 1,074 pediatric brain tumors

NGS-based WHO-aligned integrated diagnoses generated for 644 of 1,074 tumors

RNA-Seq analysis infers medulloblastoma subtypes, TP53 status, and telomerase activity

OpenPBTA will accelerate therapeutic translation of genomic insights