CASE STUDY
Gene data annotation from raw sequence to meaningful insights
Key Highlights
- Comprehensive approach aimed at unraveling the complex mutational landscape of colorectal cancer, paving the way for targeted therapies and precision medicine.
- Utilizing the Sequence Read Archive (SRA) database from the National Center for Biotechnology Information (NCBI).
- Leveraging Picard tools for read group manipulation, duplicate marking, and generation of informative metrics
- Execution of GATK tools for filtering mutect calls, considering tumour segmentation, contamination, and artifact priors.
- Further work being done