CRISPR-dPCR: A unified multiplex digital PCR framework for quantitative characterization of targeted knock-in
Accurate characterization of CRISPR knock-in requires distinguishing site-specific integration from total donor abundance and donor-derived background while measuring editing at the target site. Here, we present CRISPR-dPCR, a modular multiplex digital PCR framework combining a locked nucleic acid-enhanced cut-site assay with junction-based detection and two orthogonal short-amplicon strategies: Poisson linkage and homology-arm subtraction. We evaluated assay modules across genomic loci, neuroblastoma models and primary human T cells, with selected assays compared on two dPCR platforms. In genotype-defined clones and mixtures with low residual donor, homology-arm subtraction most closely recovered expected knock-in abundance. Linkage provided highly specific evidence of target-cargo association without junction-spanning amplification, whereas junction assays supplied boundary-specific confirmation but were more sensitive to amplicon length and multiplexing. Five-channel panels integrated cut-site editing, donor abundance, copy-number normalization and site-specific knock-in in a single reaction. Residual donor DNA limited quantitative interpretation, particularly in early post-editing samples. Modular extensions quantified defined unintended outcomes, including chromosomal translocations. CRISPR-dPCR integrates complementary measurements into a scalable analytical framework for genome-editing research, cell and gene therapy product development and applications in longitudinal clinical monitoring of targeted integration and transgene persistence.
Authors
- Dimitrios L. Wagner (ORCID: https://orcid.org/0000-0002-2189-3579)
- Shoaib Afzal (ORCID: https://orcid.org/0000-0002-1442-4694)
- Annette Künkele (ORCID: https://orcid.org/0000-0002-8406-5412)
- Ana-Maria Nitulescu (ORCID: https://orcid.org/0009-0008-0714-6607)
- Maik Stein (ORCID: https://orcid.org/0000-0001-6181-2385)
- David N. Nguyen (ORCID: https://orcid.org/0000-0001-6808-2717)
- Hedwig E. Deubzer (ORCID: https://orcid.org/0000-0002-6115-4893)
- Viktor Glaser (ORCID: https://orcid.org/0000-0002-1385-5249)
- Ross C. Wilson (ORCID: https://orcid.org/0000-0002-0644-5540)
- Joy J. Chen (ORCID: https://orcid.org/0000-0002-3703-4787)
- Stefanie Beez
- Michael Launspach (ORCID: https://orcid.org/0000-0001-5337-5605)
- Laura Marie Hartmann (ORCID: https://orcid.org/0009-0003-6701-7931)
- Julia Macos (ORCID: https://orcid.org/0009-0008-9196-3975)
- Lena Olivia Raab
- Cassidy J. Quilalang
Institutions
- QB3 (US)
- University of California, San Francisco (US)
- German Cancer Society (DE)
- Innovative Genomics Institute (US)
- Berlin-Brandenburger Centrum für Regenerative Therapien (DE)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Stiftung Charité (DE)
- Charité - Universitätsmedizin Berlin (DE)
- University of California, Berkeley (US)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-10-27
- DOI
- https://doi.org/10.64898/2026.10.25.761665
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- preprint
Funders
- European Commission
- Deutsche Forschungsgemeinschaft
- Berlin Institute of Health
- European Health and Digital Executive Agency