Sa1944 Immunohistochemical Localisation of Kallikrein-Related Protease 14 (KLK14) in Colon Tissues During Cancer Development: Expression and Clinical Evaluation
2015
variability in the sequence quality, reads generated, or basic coverage metrics. To assess the fidelity of variant calls in the EUS FNA exome data, results were compared to mutations previously detected by a 50 gene cancer panel. Results: The sequencing study was successful with a sufficient/expected number of reads per sample generated (Table 1). The mean percent duplicate reads per sample was 12.9% (range 4.8-38.6%). Exome coverage varied between samples; 50-85% of the exome was covered at 50x, and 20-50% of the exome was covered at 100x. The 50 gene panel comparator set comprised of 87 mutations across 12 samples. Comparison revealed that 86 of 87 mutations reported by the panel were also detected by exome sequencing. Conclusion: This is the first report to demonstrate the success of EUS FNA exome-sequencing. There was sufficient coverage in all samples and the variant identification between the 50 gene panel and the exome sequencing was highly concordant. The findings reveal the potential clinical utility of this method when applied to routine clinical cytology specimens to identify potential therapeutic targets which could be readily applied in a clinical research trial and eventually direct clinical care. Table 1
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