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Related Experiment Video

Updated: Apr 27, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

12.6K

Target DNA detection and quantitation on a single cell with single base resolution.

Tania Konry, Adam Lerner, Martin L Yarmush

    Technology
    |July 1, 2014
    PubMed
    Summary

    We developed a new method for highly sensitive DNA detection in single cells, achieving single base resolution. This technique enables precise identification of genetic variations like SNPs and CNVs for cancer research.

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    Area of Science:

    • Molecular Biology
    • Genetics
    • Biotechnology

    Background:

    • Accurate DNA detection at the single-cell level is crucial for understanding cellular heterogeneity and disease mechanisms.
    • Existing methods often lack the sensitivity or resolution required for precise genetic analysis in individual cells.

    Purpose of the Study:

    • To develop and validate a novel method for ultra-sensitive DNA detection in single cells with single base resolution.
    • To demonstrate the capability of the method for identifying specific DNA sequences, including oncoviral inserts and genetic variations.

    Main Methods:

    • Integration of peptide nucleic acid (PNA) openers for targeted DNA tagging.
    • Utilizing isothermal rolling circle amplification (RCA) for signal amplification.
    • Implementing a cells-in-flow format with fluorescence-based detection and flow cytometry.

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    Last Updated: Apr 27, 2026

    Detection of Copy Number Alterations Using Single Cell Sequencing
    09:45

    Detection of Copy Number Alterations Using Single Cell Sequencing

    Published on: February 17, 2017

    12.6K
    An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
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    An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

    Published on: May 23, 2018

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    Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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    Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

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    Main Results:

    • Achieved single base resolution for DNA detection in single cells.
    • Demonstrated sensitive detection of oncoviral DNA inserts in cancer cell lines.
    • Successfully performed quantitative detection of single-nucleotide polymorphisms (SNPs) and copy-number variations (CNVs) under isothermal conditions.

    Conclusions:

    • The developed method offers a powerful tool for ultra-sensitive DNA characterization at the single-cell level.
    • Its ability to provide single base resolution and detect genetic variations opens new avenues for diagnostics and research.
    • The cells-in-flow format and isothermal amplification make it suitable for various biological applications requiring precise genetic analysis.