A platform for oncogenomic reporting and interpretation

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• Manual interpretation of cancer variants is a bottleneck in precision oncology.
• Increasingly complex genomic data necessitates advanced interpretative solutions.
• Precision oncology is expanding from individual patients to population-level studies.

Purpose of the Study:

• To introduce an open-source platform for interpreting and reporting somatic variants in cancer.
• To address the need for advanced interpretative platforms in precision oncology.
• To provide an alternative to commercial solutions for comprehensive genomic datasets.

Main Methods:

• Developed the Platform for Oncogenomic Reporting and Interpretation (PORI).
• Integrated reporting tools with a graph knowledge base and manual curation support.
• Applied PORI to a dataset of 9,961 pan-cancer genome atlas tumors.

Main Results:

• PORI facilitates the interpretation and reporting of somatic variants.
• Matched 9,961 tumors to the graph knowledge base.
• Identified therapeutically informative alterations and generated sample reports.

Conclusions:

• PORI offers an open-source solution for oncogenomic data interpretation.
• The platform supports comprehensive genomic datasets in precision oncology.
• PORI enhances the efficiency of variant interpretation and reporting.