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- W3043455905 abstract "Establishing whole exome sequencing (WES) in an accredited clinical diagnostic space is challenging. The validation (as opposed to verification) of an approach that will lead to clinical reports requires adhering to international guidelines and recommendations and developing a robust analytical pipeline that can scale due to the increasing clinical demand for comprehensive gene screening. This chapter will present a step-wise approach to WES validation that any laboratory can follow. The focus will be on highlighting the pivotal technical issues that must be addressed in validating WES and the analytical tools and QC metrics that must be considered before implementing WES in a clinical environment." @default.
- W3043455905 created "2020-07-23" @default.
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- W3043455905 date "2021-01-20" @default.
- W3043455905 modified "2023-09-26" @default.
- W3043455905 title "Clinical Validation of a Whole Exome Sequencing Pipeline" @default.
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- W3043455905 doi "https://doi.org/10.5772/intechopen.93251" @default.
- W3043455905 hasPublicationYear "2021" @default.
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