Machine Learning Application for Chromosomal Abnormalities Detection

Technology Overview

There is currently many karyotyping software for identifying and evaluating the number, shape and size of chromosomes in a sample cells to detect extra or missing chromosomes, or abnormal positions of chromosome pieces from an image. However, using this kind of software requires well-trained technicians with at least a year's worth of experience. This causes a limitationto the capacity of operating the test. Chromosomal analysis consists of dissecting and rearranging chromosomes in pairs. These tasks can be designed to be automated by using deep learning which enables computers to interpret chromosome images to find and recognize patterns as well as, or better than, humans do. We have developed an automated system that can automatically separate chromosomes from background and identify, including rearranging, which pair they belong to. This potentially provides a higher capacityin analyzing chromosomal abnormality.

Technology Features & Specifications

The analysis tool is an automatic karyotyping web application for medical labs and hospitals. It is developed using a deep learning algorithm to automatically dissect using image segmentation algorithms, thenclassify and rearrange chromosomes from sets of images using a classification model. A report is then generated highlighting the detected anomalies. Cytogenetics experts only need to review and approve the result generated by the software. Additionally, it is cloud-based, meaning that no installation and maintenance of the system is required. Thus, lab technicians can work on any device and anywhere. The developed system was trainedand validated with more than 2 million chromosome images. It yields an accuracy of 80.5%.

Potential Applications

The technology is applicable in the following industries: Medical labs & Hospitals: This platform may be usedas an assisting tool for cytogenetics technicians to semi-automate their work and improve their productivity Tele-medicine: This platform is a web-based karyotyping tool for detecting genetic disorders, which may be operated remotely from the lab.

Customer Benefits

Save karyotype testing cost Increase karyotype testing capacity and reduce technician's workload Technicians can work anywhere, on any device Software installation is not required due to systemrunning on cloud Fit for all sizes of labs and hospitals

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