Target enrichment using parallel nanoliter quantitative PCR amplification.

ABSTRACT:

Background

Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is high.

Results

We used the WaferGen Smartchip platform to perform highly parallelized PCR based target enrichment for a set of known cancer genes in a well characterized set of cancer cell lines from the NCI60 panel. Optimization of PCR assay design and cycling conditions resulted in a high enrichment efficiency. We provide proof of a high mutation rediscovery rate and have included technical replicates to enable SNP calling validation demonstrating the high reproducibility of our enrichment platform.

Conclusions

Here we

SUBMITTER: De Wilde B 

PROVIDER: S-EPMC4234423 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature