OncoGen.AI: an integrated platform for automated genomic analysis and reporting in precision oncology

The translation of complex cancer genomics into clinically actionable insights is a critical bottleneck in precision oncology. To automate the entire workflow, we present OncoGen.AI, an end-to-end, containerized platform that automates the process from raw sequencing data to a final clinical report. The platform integrates platform-agnostic pipelines (Illumina/Ion Torrent) for variant calling, copy number variation (CNV), and tumor mutational burden (TMB) analysis. Its core innovation is a clinically relevant Knowledge Graph comprising 20,242,772 triples across 11 node types, integrating data from domain-specific databases such as COSMIC, ClinVar, and others for evidence-based interpretation. The workflow culminates in a structured clinical report automatically generated by Google Gemini on the curated evidence extracted by the Knowledge Graph. When benchmarked against a diverse cohort of 13 clinical tumor exomes and validated across seven publicly available datasets, OncoGen.AI recovered 100% of pathogenic mutations identified by proprietary software (DRAGEN and Torrent Suite). Furthermore, in comparative analyses against other leading tools, OncoGen.AI demonstrated superior sensitivity, uniquely identifying clinically significant mutations in challenging Ion Torrent datasets that were otherwise missed. By providing a transparent "glass box" solution that bridges the gap between raw data and clinical action, OncoGen.AI is a comprehensive tool poised to accelerate reproducible decision-making in precision oncology.

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Publication Details

Journal
npj Precision Oncology
Published
2026-06-26
DOI
https://doi.org/10.1038/s41698-026-01578-9
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00

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article

OncoGen.AI: an integrated platform for automated genomic analysis and reporting in precision oncology

Dhwani Dholakia, Juhi Tayal, Shiva Satija, Gaurav Ahuja et al.
npj Precision Oncology
Cancer Genomics and Diagnostics
article

OncoGen.AI: an integrated platform for automated genomic analysis and reporting in precision oncology

Dhwani Dholakia, Juhi Tayal, Shiva Satija, Gaurav Ahuja, Raidhani Shome, Anurag Mehta, Sakshi Sharma, Sanjay Kumar Mohanty, Suvendu Kumar, Saveena Solanki, Himanshi Diwan, Manoj Kumar Panigrahi, Sonam Chauhan, Arushi Sharma
article en

Abstract

The translation of complex cancer genomics into clinically actionable insights is a critical bottleneck in precision oncology. To automate the entire workflow, we present OncoGen.AI, an end-to-end, containerized platform that automates the process from raw sequencing data to a final clinical report. The platform integrates platform-agnostic pipelines (Illumina/Ion Torrent) for variant calling, copy number variation (CNV), and tumor mutational burden (TMB) analysis. Its core innovation is a clinically relevant Knowledge Graph comprising 20,242,772 triples across 11 node types, integrating data from domain-specific databases such as COSMIC, ClinVar, and others for evidence-based interpretation. The workflow culminates in a structured clinical report automatically generated by Google Gemini on the curated evidence extracted by the Knowledge Graph. When benchmarked against a diverse cohort of 13 clinical tumor exomes and validated across seven publicly available datasets, OncoGen.AI recovered 100% of pathogenic mutations identified by proprietary software (DRAGEN and Torrent Suite). Furthermore, in comparative analyses against other leading tools, OncoGen.AI demonstrated superior sensitivity, uniquely identifying clinically significant mutations in challenging Ion Torrent datasets that were otherwise missed. By providing a transparent "glass box" solution that bridges the gap between raw data and clinical action, OncoGen.AI is a comprehensive tool poised to accelerate reproducible decision-making in precision oncology.

npj Precision Oncology
Indraprastha Institute of Information Technology Delhi (IN), Rajiv Gandhi Cancer Institute and Research Centre (IN)
Indraprastha Institute of Information Technology, Delhi
Openalex Percentile: Top 8%
Cancer Genomics and Diagnostics
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