# Karyotype AI for Precision Oncology

arXiv: https://arxiv.org/abs/2211.14312 · HTML: https://mlsanity.com/paper/2211.14312/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 6 of its 34 references that are in the map.
- First posted on arXiv 20 Nov 2022.

## Builds on (most cited first, 6 of 6)

- [Attention Is All You Need](https://mlsanity.com/paper/1706.03762/) (2017)
- [An Image is Worth 16x16 Words: Transformers for Image Recognition at Scale](https://mlsanity.com/paper/2010.11929/) (2020)
- [Rethinking the Inception Architecture for Computer Vision](https://mlsanity.com/paper/1512.00567/) (2015)
- [You Only Look Once: Unified, Real-Time Object Detection](https://mlsanity.com/paper/1506.02640/) (2015)
- [Rethinking Attention with Performers](https://mlsanity.com/paper/2009.14794/) (2020)
- [From block-Toeplitz matrices to differential equations on graphs: towards a general theory for scalable masked Transformers](https://mlsanity.com/paper/2107.07999/) (2021)

## Abstract (arXiv)

We present a machine learning method capable of accurately detecting chromosome abnormalities that cause blood cancers directly from microscope images of the metaphase stage of cell division. The pipeline is built on a series of fine-tuned Vision Transformers. Current state of the art (and standard clinical practice) requires expensive, manual expert analysis, whereas our pipeline takes only 15 seconds per metaphase image. Using a novel pretraining-finetuning strategy to mitigate the challenge of data scarcity, we achieve a high precision-recall score of 94% AUC for the clinically significant del(5q) and t(9;22) anomalies. Our method also unlocks zero-shot detection of rare aberrations based on model latent embeddings. The ability to quickly, accurately, and scalably diagnose genetic abnormalities directly from metaphase images could transform karyotyping practice and improve patient outcomes. We will make code publicly available.