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- W91837152 abstract "The advent of next-generation sequencing (NGS) technologies facilitated a breakthrough in the speed and cost of sequencing. This has transformed the ability of molecular diagnostic laboratories to provide comprehensive genetic testing for patients by targeting a large number of genes, the exome, or the entire genome. Gene enrichment, or targeted, approaches for NGS include amplification-based strategies and hybrid capture strategies. This chapter reviews the application and utility of the target hybrid capture approach in the diagnosis of constitutive diseases. In addition, a comparison of technical and interpretive parameters to other enrichment strategies, as well as to whole exome/genome sequencing, will be discussed." @default.
- W91837152 created "2016-06-24" @default.
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- W91837152 date "2015-01-01" @default.
- W91837152 modified "2023-09-24" @default.
- W91837152 title "Targeted Hybrid Capture for Inherited Disease Panels" @default.
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- W91837152 doi "https://doi.org/10.1016/b978-0-12-404748-8.00016-2" @default.
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