Quantification of rare allelic variants from pooled genomic DNA
Copyright policy )Quantification of rare allelic variants from pooled genomic DNA
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.
- Washington University in St. Louis United States
- WASHINGTON UNIVERSITY
- University of Mary United States
- Washington University in St. Louis School of Medicine United States
- WASHINGTON UNIVERSITY
Base Sequence, Molecular Sequence Data, Chromosome Mapping, Genetic Variation, Reproducibility of Results, DNA, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Article, Gene Frequency, Sequence Alignment, Algorithms, Software
Base Sequence, Molecular Sequence Data, Chromosome Mapping, Genetic Variation, Reproducibility of Results, DNA, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Article, Gene Frequency, Sequence Alignment, Algorithms, Software
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