Abstract:We present KAYRA, an end-to-end karyotyping system that operates inside the operational constraints of a clinical cytogenetic laboratory. KAYRA is architected as a containerized microservice pipeline whose ML stack combines an EfficientNet-B5 + U-Net semantic segmenter, a Mask R-CNN (ResNet-50 + FPN) instance detector, and a ResNet-18 classifier, orchestrated through a cascaded ROI-narrowing strategy that focuses each downstream model on the chromosome-bearing region. The same container images are deployed both as a cloud service and as an on-premise installation, supporting clinical environments where patient-data egress is not permitted as well as those where it is. A pilot clinical evaluation against two commercial reference karyotyping systems on 459 chromosomes from 10 metaphase spreads shows segmentation accuracy of 98.91 % (vs. 78.21 % / 40.52 %), classification accuracy of 89.1 % (vs. 86.9 % / 54.5 %), and rotation accuracy of 89.76 % (vs. 94.55 % / 78.43 %). KAYRA improves over the older density-thresholding reference on all three axes (p < 0.0001 for segmentation and classification by Fisher's exact test on chromosome-level counts), and on segmentation also against the modern AI- supported reference (p < 0.0001); on classification the difference vs. the modern AI reference is not statistically significant at the present test-set size (p = 0.34). The system reaches TRL 6 maturity and integrates the human-in-the-loop expert-review workflow that diagnostic cytogenetic practice requires. The thesis of this paper is that a multi-model cytogenetic AI service can be packaged as a microservice architecture supporting flexible deployment - cloud-hosted or on-premise - while delivering strong empirical performance on a pilot clinical evaluation.
| Subjects: | Machine Learning (cs.LG); Computer Vision and Pattern Recognition (cs.CV) |
| Cite as: | arXiv:2604.26869 [cs.LG] |
| (or arXiv:2604.26869v1 [cs.LG] for this version) | |
| https://doi.org/10.48550/arXiv.2604.26869 arXiv-issued DOI via DataCite (pending registration) |
Submission history
From: Gyorgy Cserey [view email]
[v1]
Wed, 29 Apr 2026 16:35:31 UTC (1,328 KB)