KAYRA: A Microservice Architecture for AI-Assisted Karyotyping with Cloud and On-Premise Deployment

arXiv cs.LG / 4/30/2026

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Key Points

  • KAYRAは、臨床細胞遺伝学ラボの運用制約に合わせて設計された、AI支援の核型(カリオタイピング)エンドツーエンドシステムです。
  • コンテナ化されたマイクロサービス型パイプラインで、EfficientNet-B5 + U-Netによるセグメンテーション、Mask R-CNN(ResNet-50 + FPN)による検出、ResNet-18による分類を、ROIを段階的に絞り込むカスケード戦略で統合します。
  • クラウド配信とオンプレミス導入の両方に同一コンテナを使えるため、患者データの国外持ち出しが禁止される環境にも対応します。
  • 10枚の中期分裂像から459個の染色体を対象にしたパイロット評価では、セグメンテーション精度98.91%、分類精度89.1%、回転精度89.76%を示し、従来手法や一部の現行AI参照に対して統計的に有意な改善が報告されています。
  • TRL6の成熟度に達しており、診断に必要なヒューマン・イン・ザ・ループの専門家レビュー工程とも統合されます。

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.