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Main Authors: Shamsi, Zahra, Reid, Isaac, Bryant, Drew, Wilson, Jacob, Qu, Xiaoyu, Dubey, Avinava, Kothari, Konik, Dehghani, Mostafa, Chavarha, Mariya, Likhosherstov, Valerii, Williams, Brian, Frumkin, Michael, Appelbaum, Fred, Choromanski, Krzysztof, Bashir, Ali, Fang, Min
Format: Preprint
Published: 2022
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Online Access:https://arxiv.org/abs/2211.14312
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author Shamsi, Zahra
Reid, Isaac
Bryant, Drew
Wilson, Jacob
Qu, Xiaoyu
Dubey, Avinava
Kothari, Konik
Dehghani, Mostafa
Chavarha, Mariya
Likhosherstov, Valerii
Williams, Brian
Frumkin, Michael
Appelbaum, Fred
Choromanski, Krzysztof
Bashir, Ali
Fang, Min
author_facet Shamsi, Zahra
Reid, Isaac
Bryant, Drew
Wilson, Jacob
Qu, Xiaoyu
Dubey, Avinava
Kothari, Konik
Dehghani, Mostafa
Chavarha, Mariya
Likhosherstov, Valerii
Williams, Brian
Frumkin, Michael
Appelbaum, Fred
Choromanski, Krzysztof
Bashir, Ali
Fang, Min
contents 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.
format Preprint
id arxiv_https___arxiv_org_abs_2211_14312
institution arXiv
publishDate 2022
record_format arxiv
spellingShingle Karyotype AI for Precision Oncology
Shamsi, Zahra
Reid, Isaac
Bryant, Drew
Wilson, Jacob
Qu, Xiaoyu
Dubey, Avinava
Kothari, Konik
Dehghani, Mostafa
Chavarha, Mariya
Likhosherstov, Valerii
Williams, Brian
Frumkin, Michael
Appelbaum, Fred
Choromanski, Krzysztof
Bashir, Ali
Fang, Min
Quantitative Methods
Computer Vision and Pattern Recognition
Machine Learning
Image and Video Processing
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.
title Karyotype AI for Precision Oncology
topic Quantitative Methods
Computer Vision and Pattern Recognition
Machine Learning
Image and Video Processing
url https://arxiv.org/abs/2211.14312