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Updated: Jun 25, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Quantification of rare allelic variants from pooled genomic DNA
Todd E Druley1, Francesco L M Vallania, Daniel J Wegner
1Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
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.
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