Design and Validation of Multiplex Reference Standards for Mutation Profiling on NGS Platforms

摘要

Next Generation Sequencing (NGS) offers significant advantages for mutation profiling, mainly the ability to detect all mutation types, including SNPs, CNV, insertion/deletions and translocations, in many samples and many genes simultaneously. NGS also provides a read-out of the mutation frequency. However, in order to utilize NGS in routine clinical practice, operators are required to validate all aspects of the NGS workflow, to ensure that genetic variations are correctly identified in diagnostic practice. A method for validation is required that goes beyond the current use of CEPH sample cell lines. In response to the need for a better reference standard for NGS, Horizon has created a multiplex reference standard covering many commonly assayed cancer mutations.