Performance Evaluation of Whole-Genome Amplification Platforms for Clinical Next-Generation Sequencing with Minimal Nucleic Acid Input
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.
Authors
- Yu Jin Park (ORCID: https://orcid.org/0000-0002-8673-5256)
- Dongju Won (ORCID: https://orcid.org/0000-0002-0084-0216)
- Hyeonah Lee (ORCID: https://orcid.org/0000-0002-8164-1947)
- Jong Rak Choi (ORCID: https://orcid.org/0000-0002-0608-2989)
- Seung‐Tae Lee (ORCID: https://orcid.org/0000-0003-1047-1415)
- Saeam Shin (ORCID: https://orcid.org/0000-0003-1501-3923)
- Mi Ri Park (ORCID: https://orcid.org/0000-0001-7689-0781)
- Namsoo Kim (ORCID: https://orcid.org/0000-0002-1098-4782)
- Yehyun Kang (ORCID: https://orcid.org/0009-0002-4888-1356)
Institutions
- Yonsei University (KR)
- Nexen (Canada) (CA)
- Korea National Institute of Health (KR)
- Korea Air Force Academy (KR)
Publication Details
- Journal
- Annals of Laboratory Medicine
- Published
- 2025-11-24
- DOI
- https://doi.org/10.3343/alm.2025.0348
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00