Method and System for Disease Prediction and Diagnostics through Visualization of Genetic Data

Technology:; System & method for Disease Prediction and Diagnostics through Visualization Of Genetic Data

Industry & Application: Bio Medical Engineering, Clean Energy,

Market: The global genetic testing market is projected to reach at a CAGR of 11.7% during the forecast period (2024-2032).

The problem statement discussed in the present invention is how to implement an accurate diagnosing & predicting the life-threatening diseases using system & method without spending costlier diagnostic tools including other issues.
Hence, there is a need to address the issue.

Present patent describes a computer-implemented method of generating a readable image from exome sequence data of a subject. The method comprises the steps of:
System receives exome sequence data of the subject in a VCF file comprising genetic variation data;
A plurality of segmented images are generated based on set dimensions, where each segmented image represents a chromosome for the subject & each pixel represents a variation in the chromosome.
Each pixel of the segmented images are color coded according to genetic variations.
An image is generated by cluttering the color-coded segments which is configured to be recognized by a machine learning model & is indicative of genetic variation associated with the subject.
It is noted that the VCF file is generated based on comparison of sequenced exome data with a reference sample, & wherein the sequenced exome data is received from a high throughput sequencing pipeline.

Technical & Industrial Perspective:

Enables high throughput, efficient & accurate diagnosis & prediction of diseases.
Targets wide group of users including researchers and scientists for discovering novel mutations and genes responsible for diseases.

Utility

The methods and system are reliable, time-saving, and cost-effective.
Users including doctors, hospitals, and patients for identifying diseases at an early stage, health insurance and corporate companies to formulate accurate & personalized amount of premium for each individual and save losses.

Prof. Srinivasa Chakravarthy

Department of Biotechnology

TRL-4

Technology validated in Laboratory

Technology Transfer