Abstract 3576: Accurate identification of somatic mutations in cancer patient specimens in the lack of normal tissue by targeted high-throughput sequencing
Abstract:Tumor molecular profiling is rapidly becoming the standard clinical test for selecting targeted therapies in refractory cancer patients. DNA extracted from patient samples is enriched for cancer genes and sequenced to identify actionable somatic mutations therein. A major challenge arises when tumor-derived data is analyzed in the absence of normal tissue data, as it is common in clinical scenarios. The distinction between somatic and germline variants become difficult, leaving clinicians to resort to crude he… Show more
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