1.
Nat Methods
; 6(4): 263-5, 2009 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19252504
RESUMO
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.