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Updated: Aug 13, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
BEAMing up for detection and quantification of rare sequence variants
Meng Li1, Frank Diehl, Devin Dressman
1The Sidney Kimmel Comprehensive Cancer Center, Howard Hughes Medical Institute, and Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, 1650 Orleans Street, Baltimore, Maryland 21231, USA.
Abstract:
BEAMing allows the one-to-one conversion of a population of DNA fragments into a population of beads. We used rolling circle amplification to increase the number of copies bound to such beads by more than 100-fold. This allowed enumeration of mutant and wild-type sequences even when they were present at ratios less than 1:10,000 and was sensitive enough to directly quantify the error rate of DNA polymerases used for PCR.

