Detection of low-frequency DNA variants by targeted sequencing of the Watson and Crick strands

Study ID Alternative Stable ID Type
EGAS00001005048 Other

Study Description

Identification and quantification of low-frequency mutations remain challenging despite improvements in the baseline error rate of next-generation sequencing technologies. Here, we describe a method, termed SaferSeqS, that addresses this challenge by (1) efficiently introducing identical molecular barcodes in the Watson and Crick strands of template molecules and (2) enriching target sequences with strand-specific PCR. The method achieves high sensitivity and specificity and detects variants at frequencies below 1 in 100,000 DNA template molecules with a background mutation rate of <5 × 10-7 mutants per base pair (bp). We demonstrate that it can evaluate mutations in a single amplicon or simultaneously in multiple amplicons, assess limited quantities of cell-free DNA with high recovery of both strands and reduce the error rate of existing PCR-based molecular barcoding approaches by >100-fold.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Bam files aligned using hg19. Sequencing data generated with Illumina MiSeq, HiSeq 2500, or HiSeq 4000 instruments.
Illumina HiSeq 2500,Illumina HiSeq 4000,Illumina MiSeq 62

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