Quantification of rare allelic variants from pooled genomic DNA.

ABSTRACT: We report a targeted, cost-effective method to quantify rare single-nucleotide polymorphisms from pooled human genomic DNA using second-generation sequencing. We pooled DNA from 1,111 individuals and targeted four genes to identify rare germline variants. Our base-calling algorithm, SNPSeeker, derived from large deviation theory, detected single-nucleotide polymorphisms present at frequencies below the raw error rate of the sequencing platform.

SUBMITTER: Druley TE 

PROVIDER: S-EPMC2776647 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature