Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing.

ABSTRACT:

Background

Many hypothesis-driven genetic studies require the ability to comprehensively and efficiently target specific regions of the genome to detect sequence variations. Often, sample availability is limited requiring the use of whole genome amplification (WGA). We evaluated a high-throughput microdroplet-based PCR approach in combination with next generation sequencing (NGS) to target 384 discrete exons from 373 genes involved in cancer. In our evaluation, we compared the performance of six non-amplified gDNA samples from two HapMap family trios. Three of these samples were also preamplified by WGA and evaluated. We tested sample pooling or multiplexing strategies at different stages of the tested targeted NGS (T-NGS) workflow.

Results

The results demonstrated comparabl

SUBMITTER: ElSharawy A 

PROVIDER: S-EPMC3534403 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature