Quantification of rare allelic variants from pooled genomic DNA.
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ABSTRACT:
SUBMITTER: Druley TE
PROVIDER: S-EPMC2776647 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Publications
Quantification of rare allelic variants from pooled genomic DNA.
Druley Todd E TE Vallania Francesco L M FL Wegner Daniel J DJ Varley Katherine E KE Knowles Olivia L OL Bonds Jacqueline A JA Robison Sarah W SW Doniger Scott W SW Hamvas Aaron A Cole F Sessions FS Fay Justin C JC Mitra Robi D RD
Nature methods 20090301 4
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. ...[more]
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