Detecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant caller.

ABSTRACT:

Background

Detection of DNA mutations at very low allele fractions with high accuracy will significantly improve the effectiveness of precision medicine for cancer patients. To achieve this goal through next generation sequencing, researchers need a detection method that 1) captures rare mutation-containing DNA fragments efficiently in the mix of abundant wild-type DNA; 2) sequences the DNA library extensively to deep coverage; and 3) distinguishes low level true variants from amplification and sequencing errors with high accuracy. Targeted enrichment using PCR primers provides researchers with a convenient way to achieve deep sequencing for a small, yet most relevant region using benchtop sequencers. Molecular barcoding (or indexing) provides a unique solution for reducing sequenc

SUBMITTER: Xu C 

PROVIDER: S-EPMC5209917 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature