Article
Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors.
Neoplasma - 1 Jul 2020
Shinriki S, Maeshiro M, Shimamura K, Kawashima J, Araki E, Ibusuki M, Yamamoto Y, Iwase H, Miyamoto Y, Baba H, Yamaguchi M, Matsui H
Abstract excerpt
Genetic testing based on next-generation sequencing (NGS) analysis has recently been used to diagnose hereditary diseases. In this study, we explored the usefulness of our custom amplicon panel that targeted 23 genes related to hereditary tumors given in the American College of Medical Genetics and Genomics recommendations. We applied our custom NGS panel to samples from 12 patients previously diagnosed by Sanger...
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