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Related Experiment Video

Updated: Apr 3, 2026

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

Targeted single molecule mutation detection with massively parallel sequencing.

Mark T Gregory¹, Jessica A Bertout¹, Nolan G Ericson¹

¹Translational Research Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

Nucleic Acids Research

|September 19, 2015

Summary

This summary is machine-generated.

CypherSeq enhances next-generation sequencing (NGS) by correcting errors and enriching targets, enabling the detection of rare DNA variants at unprecedented frequencies. This method advances genomic research and clinical applications.

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Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Next-generation sequencing (NGS) has revolutionized genomics but is limited by background error rates and insufficient read coverage for detecting rare DNA variants.
Existing NGS methods struggle to identify extremely low-frequency mutations crucial for early disease detection and understanding genomic instability.

Purpose of the Study:

To develop and validate a novel method, CypherSeq, for significantly improving the detection sensitivity of rare DNA sequence variants using NGS.
To demonstrate CypherSeq's capability for both genome-wide and targeted rare mutation detection with high accuracy.

Main Methods:

CypherSeq integrates double-stranded barcoding for computational error correction with rolling circle amplification (RCA) for targeted DNA enrichment.
Sample DNA is ligated into circular vectors containing double-stranded barcodes and sequencing adapters, enabling robust error correction and library preparation.

Main Results:

CypherSeq reproducibly detects mutations down to a frequency of 2.4 × 10⁻⁷ per base pair, correcting errors from library preparation and sequencing.
The method successfully identified spontaneous and induced mutations across the Saccharomyces cerevisiae genome, characterizing their frequency and spectra.

Conclusions:

CypherSeq significantly enhances the sensitivity and accuracy of rare variant detection in NGS.
This technology holds substantial potential for advancing genomic research, diagnostics, and the study of mutation dynamics.