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Updated: Feb 2, 2026
09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
9.9K
Quantification of Aneuploidy in Mammalian Systems
Hilda van den Bos1, Bjorn Bakker1, Aaron Taudt1,2
1European Research Institute for the Biology of Ageing (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Methods in Molecular Biology (Clifton, N.J.)
|November 27, 2018
Summary
This study introduces a novel single-cell whole genome sequencing (scWGS) platform for high-resolution copy number profiling without preamplification. The method efficiently detects genomic heterogeneity in individual cells, reducing costs and analysis time.
Area of Science:
- Genomics
- Molecular Biology
- Cancer Research
Background:
- High-throughput next-generation sequencing (NGS) is crucial for detecting genomic heterogeneity.
- Existing methods for single-cell genomic analysis face limitations in resolution and cost.
Purpose of the Study:
- To develop and detail a single-cell whole genome sequencing (scWGS) platform.
- To enable high-resolution assessment of copy number alterations (CNAs) in individual cells.
- To provide a cost-effective and rapid protocol for single-cell genomic analysis.
Main Methods:
- Single-cell isolation and library preparation.
- Low-coverage whole genome sequencing without a preamplification step.
- Multiplexing of up to 384 single-cell libraries per sequencing run.
- Bioinformatic analysis for copy number profiling.
Main Results:
- Acquisition of reliable, high-resolution single-cell copy number profiles.
- Detection of whole-chromosome aneuploidies, structural aneuploidies, and local small CNAs.
- Significant reduction in sequencing costs due to multiplexing.
- Completion of the entire protocol from cell isolation to data analysis within 3-4 days.
Conclusions:
- The developed scWGS platform offers a powerful tool for studying genomic heterogeneity at the single-cell level.
- This method provides a reliable and cost-effective approach for high-resolution copy number profiling.
- The rapid turnaround time and multiplexing capability make this platform suitable for large-scale studies in cancer and normal tissues.
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