Quantification of rare allelic variants from pooled genomic DNA.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 19252504.
- Also identified by DOI 10.1038/nmeth.1307 and PMC identifier 2776647.
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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.
Medical subject headings
- Algorithms
- Chromosome Mapping
- DNA
- Gene Frequency
- Genetic Variation
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA