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Updated: Apr 15, 2026

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
Published on: May 23, 2018
Sequencing small genomic targets with high efficiency and extreme accuracy
Michael W Schmitt1, Edward J Fox2, Marc J Prindle2
11] Department of Medicine, Divisions of Hematology and Medical Oncology, University of Washington, Seattle, Washington, USA. [2] Department of Pathology, University of Washington, Seattle, Washington, USA. [3] Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Detecting rare mutations in DNA mixtures is now easier. Our new method uses biotinylated oligonucleotides for high-fold enrichment and molecular tags for accurate, single-DNA molecule mutation quantification.
Area of Science:
- Genomics
- Molecular Biology
- Biotechnology
Background:
- Detecting rare genetic variants in complex DNA mixtures is challenging.
- Accurate sequencing of small genomic regions is crucial for identifying low-frequency mutations.
Purpose of the Study:
- To develop an efficient method for enriching specific genomic regions.
- To enable accurate quantification of mutations at the single-DNA molecule level.
Main Methods:
- Sequential hybridization with biotinylated oligonucleotides for >1-million-fold enrichment.
- Utilizing error-correcting double-stranded molecular tags for accurate sequencing.
Main Results:
- Achieved significant enrichment of targeted genomic regions.
- Enabled precise quantification of mutations in individual DNA molecules.
Conclusions:
- The described approach provides a powerful tool for sensitive detection of minority variants.
- This method enhances the accuracy of mutation detection in mixed samples.
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