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The WUCaMP assay uses targeted capture for NGS analysis of 25 cancer-associated genes to detect mutations at actionable loci.
Recent advances in the sequencing of ancient DNA have also benefited from targeted capture.
Exome sequencing is, for all intents and purposes, the same as hybridization targeted capture in methodology.
Both targeted capture and whole-genome resequencing are currently being used to study cancers of various types.
Note that shorter targets (≥ 60 bp) are possible, but targeted capture performance is expected to decline for relatively short regions.
Current practice now sees coverage assessments for known genes post-WES and targeted capture screens of known disease causing genes (Carvill et al. 2013).
We successfully developed a pooling and targeted capture strategy that enabled rapid and cost effective next generation sequencing of target genes in a large patient cohort.
The large genomic studies summarized in this review provide a catalog of genes that can be drawn from to assemble targeted capture assays for higher-depth analysis.
Genetic testing using targeted capture followed by next-generation sequencing was efficient, cost-effective, and enabled a molecular diagnosis in many refractory cases.
Although sex loci have been mapped with RAD (Anderson et al. 2012) and highly parallel SNP genotyping (Bradley et al. 2011), targeted capture has not been used previously.
Modifications to our approach, such as barcoding and advanced targeted capture methodologies will be useful for increasing sample size and gene discovery.
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