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The Broad Institute

The Broad Institute could not analyze more than 5,000 genomes at a time due to database constraints.

ODA solved the challenge with a GenomicsDB, and array-based solution that scales to millions of genomes and can be hosted on the cloud. GenomicsDB is open-source and fully integrated into Broad’s GATK pipeline.

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Children's Cancer Therapy Institute

Children’s Cancer Therapy Development Institute understood correctly diagnosing a rare childhood cancer such as sarcoma can be critical to assigning the correct treatment regimen. With a finite number of pathologists worldwide specializing in pediatric/young adult sarcoma histopathology, access to expert differential diagnosis early in case assessment is limited for many global regions.

CCTDI used the ODA Framework to develop and support a deep learning convolutional neural network (CNN)-based differential diagnosis system to act as a pre-pathologist screening tool that quantifies diagnosis likelihood amongst trained soft-tissue sarcoma subtypes based on whole histopathology tissue slides. The CNN model is trained on a cohort of 424 centrally-reviewed histopathology tissue slides of alveolar rhabdomyosarcoma, embryonal rhabdomyosarcoma and clear-cell sarcoma tumors, all initially diagnosed at the originating institution and subsequently validated by central review.

The ODA Framework and the CNN model was able to accurately classify the withheld testing cohort with resulting receiver operating characteristic (ROC) area under curve (AUC) values above 0.889 for all tested sarcoma subtypes. The positive result demonstrated the potential of machine learning to assist local pathologists in quickly narrowing the differential diagnosis of sarcoma subtype in children, adolescents, and young adults.

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