Content area
Background
The Cancer Immune Monitoring and Analysis Centers – Cancer Immunologic Data Center (CIMAC-CIDC) network aims to improve cancer immunotherapy by providing harmonized molecular assays and standardized bioinformatics analysis.
Results
In response to evolving bioinformatics standards and the migration of the CIDC to the National Cancer Institute (NCI), we undertook the enhancement of the CIDC’s extant whole exome sequencing (WES) and RNA sequencing (RNA-Seq) pipelines. Leveraging open-source tools and cloud-based technologies, we implemented modular workflows using Snakemake and Docker for efficient deployment on the Google Cloud Platform (GCP). Benchmarking analyses demonstrate improved reproducibility, precision, and recall across validated truth sets for variant calling, transcript quantification, and fusion detection.
Conclusion
This work establishes a scalable framework for harmonized multi-omic analyses, ensuring the continuity and reliability of bioinformatics workflows in multi-site clinical research aimed at advancing cancer biomarker discovery and personalized medicine.
Details
Clinical trials;
Accuracy;
Datasets;
Toxicity;
Precision medicine;
Immunotherapy;
Bioinformatics;
Open source software;
Quality control;
Laboratories;
Data analysis;
Genomes;
Oncology;
Software upgrading;
Cancer immunotherapy;
Clinical outcomes;
Computer centers;
Quality standards;
Pipelines;
Gene sequencing;
Biomarkers;
Medical research;
Whole genome sequencing;
Lymphoma;
Reproducibility
