The Technology
Immunotherapy has revolutionized cancer therapy. Yet, many patients do not respond, thus making the search for biomarkers a critical need. One of the FDA-approved biomarkers is Tumor Mutational Burden (TMB), standing for the number of somatic mutations detected in the DNA of a given tumor. Such mutations are typically detected using DNA sequencing from the patient’s tumor as well as blood sample. Since not all DNA mutations are expressed, estimating the TMB from RNA is more informative. RNA-MuTect-WMN is a machine learning (ML)- based method for detecting somatic mutations from bulk tumor samples. By classifying variants as either somatic or germline, it saves the cost of sequencing DNA from the blood sample and generates a more reliable TMB metric.
Advantages
- More accurate diagnosis will provide better outcome
Improved patient stratification - Reduced healthcare costs and overload on hospitals
Applications
- Supporting decision making in cancer treatment
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