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Related Experiment Video

Updated: Jul 16, 2025

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Quantification of Genetic Heterogeneity Using Long-Read Targeted Individual DNA Molecule Sequencing.

Yingzi Zhang1, Arun Pandian Chandrasekaran1, Chongwei Bi1

  • 1Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.

Current Protocols
|September 20, 2023
PubMed
Summary
This summary is machine-generated.

Individual DNA Molecule Sequencing (IDMseq) accurately quantifies genetic heterogeneity and rare variants in cell populations. This method uses unique molecule identifiers (UMIs) for precise allele frequency measurement in diverse research settings.

Keywords:
IDMseqgenetic heterogeneityindividual DNA moleculerare variantstargeted sequencing

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Area of Science:

  • Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Genetic heterogeneity is crucial for understanding biological systems and gene-environment interactions.
  • Accurate quantification of genetic variants, especially rare ones, is challenging in cell populations.

Purpose of the Study:

  • To introduce and detail a novel method, Individual DNA Molecule Sequencing (IDMseq), for precise quantification of genetic heterogeneity.
  • To provide a comprehensive protocol for applying IDMseq in various research contexts.

Main Methods:

  • IDMseq utilizes unique molecule identifiers (UMIs) to tag individual DNA molecules, ensuring distinct representation.
  • The method incorporates error correction and long-read sequencing for sensitive variant detection.
  • Includes protocols for UMI labeling, DNA amplification, cleanup, and data analysis.

Main Results:

  • IDMseq enables accurate quantification of allele frequencies, even for rare variants.
  • The technique allows for the sensitive detection of single nucleotide variants and large structural variants.
  • Demonstrates versatility for both basic and clinical research applications.

Conclusions:

  • IDMseq offers a robust solution for quantifying genetic heterogeneity with high precision.
  • The protocol facilitates sensitive detection of diverse genetic variations in biological samples.
  • IDMseq is a valuable tool for advancing genetic research in various settings.