What question did this study set out to answer?

To develop and evaluate Concatenating Original Duplex for Error Correction (CODEC), an approach providing single-duplex DNA resolution to next-generation sequencing platforms.

April 27, 2023Nature GeneticsOpen Access

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

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Authors

JBJin H. BaeBroad Institute RLRuolin LiuBroad Institute EREugenia RobertsBroad Institute

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Implication

Experimental validation demonstrates high-accuracy single-duplex mutation detection in human tissues and liquid biopsies, indicating enhanced sensitivity for rare genetic variants.

Key Points

To develop and evaluate Concatenating Original Duplex for Error Correction (CODEC), an approach providing single-duplex DNA resolution to next-generation sequencing platforms.
Engineered CODEC to physically concatenate both paired strands of individual DNA duplexes prior to sequencing for direct double-stranded error correction.
Assayed human samples across biological contexts, including sperm from a 39-year-old individual, aging blood cells, tumor genomes, and liquid biopsies.
Demonstrated 1,000-fold higher accuracy than standard next-generation sequencing while utilizing up to 100-fold fewer sequencing reads than conventional duplex sequencing.
Identified a mutation frequency of 2.72 × 10⁻⁸ in human sperm DNA and resolved single mutated duplexes from aging blood cells and tumor tissues.
Achieved 10-fold greater sensitivity in detecting microsatellite instability and identified specific tumor mutations with up to 100-fold fewer sequencing reads.

Cite This Study

Bae et al. (2023) studied this question.

synapsesocial.com/papers/69d9629c7fca1f84ab684e5a https://doi.org/10.1038/s41588-023-01376-0

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Implication

Experimental validation demonstrates high-accuracy single-duplex mutation detection in human tissues and liquid biopsies, indicating enhanced sensitivity for rare genetic variants.

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Discussion

Member takes

Implication

Key Points

Cite This Study

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Discussion

Member takes

Implication

Key Points

Cite This Study

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