Performance Evaluation of Whole-Genome Amplification Platforms for Clinical Next-Generation Sequencing with Minimal Nucleic Acid Input

This is the authors' abstract. We don't add key points for this paper.

Each platform demonstrated specific strengths and limitations depending on analytical endpoints. Modified MALBAC-based platforms can perform optimally when quantitative accuracy is critical, such as in chimerism or CNV analysis, whereas PTA-based WGA can be preferred when allelic fidelity is essential. Our findings can help guide platform selection tailored to specific clinical applications using low-input NGS, including preimplantation testing or cell-free DNA analysis.