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.

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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

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preprint

CRISPR-dPCR: A unified multiplex digital PCR framework for quantitative characterization of targeted knock-in

Dimitrios L. Wagner, Shoaib Afzal, Annette Künkele, Ana-Maria Nitulescu et al.
bioRxiv (Cold Spring Harbor Laboratory)
CRISPR and Genetic Engineering
preprint

CRISPR-dPCR: A unified multiplex digital PCR framework for quantitative characterization of targeted knock-in

Dimitrios L. Wagner, Shoaib Afzal, Annette Künkele, Ana-Maria Nitulescu, Maik Stein, David N. Nguyen, Hedwig E. Deubzer, Viktor Glaser, Ross C. Wilson, Joy J. Chen, Stefanie Beez, Michael Launspach, Laura Marie Hartmann, Julia Macos, Lena Olivia Raab, Cassidy J. Quilalang
preprint en

Abstract

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.

bioRxiv (Cold Spring Harbor Laboratory)
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)
European Commission, Deutsche Forschungsgemeinschaft, Berlin Institute of Health, European Health and Digital Executive Agency
CRISPR and Genetic Engineering
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