Currently, Sarah Cannon physicians are ordering targeted sequencing tests. In contrast to whole-genome, exome or whole-transcriptome sequencing, targeted DNA or RNA sequencing focuses the analysis on specific areas of interest. The ability to use targeted sequencing allows NGS to be employed routinely for genetic profiling of tumors in clinical practice and in clinical research. This sequencing approach can help identify rare or novel variants as well as those occurring at low frequency within a sample. When matched with germline DNA, it can also verify the somatic (tumor) nature of rare variants across a large number of samples.
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For more information regarding the molecular profiling and personalized medicine efforts at Sarah Cannon, please email the personalized medicine team.