Fig. 3: CRISPECTOR detects and quantifies adverse translocation events.

a Schematic description of all four translocation types. Schematic description of all possible translocations for chromosomes 3 and 10 p arms. The expected cut-sites are colored red and ⊕ denotes the concatenation/fusion of the sequences. The four possible fusion types give rise to structures that are either single-centromeric (A & B), centromere-free (C), or double-centromeric (D). b Translocation reads heatmap for RAG2, XT 2p, HEK293-Cas9. 19 translocations with a Hypergeometric (FDR corrected) p-value < 0.05 are presented in the heatmap with the associated read counts. For example: 225 reads were found between RAG2_5 and RAG2_1, yielding a p-value of 1.53 × 10⁻⁶⁵. c ddPCR Validation of translocation events. Specific translocation or structural variation events were individually experimentally measured using event-specific ddPCR primers and probes. The means of 8 technical repeats are also depicted above (black lines). WRS (Wilcoxon Rank Sum)⁴¹ one-sided p-values to support the higher Tx values measured are: 7.7 × 10⁻⁴, 0.29, 0.027, 0.074, 0.09, and 0.17, ordered as in the figure. Source data is provided as a source data file. d Validation of CRISPECTOR translocation detection process based on synthetic spike-in standards. Edited RAG2, XT 2p, HEK293-Cas9 genomic DNA was spiked-in with serial dilutions (0, 0.016, 0.16, 1.6 and 16%) of RAG2_10/RAG2_7 synthetic fusion construct (see text). Observed numbers of fusion reads for the spiked-in RAG2_10/RAG2_7 construct (in orange) and for the naturally occurring RAG2_1/RAG2_5 (in green) are presented.