Study - Diagnosing rare pediatric diseases in record time
Rapid identification of disease-causing variants in DNA enables prompt diagnosis and treatment of rare disease in children.
- Institution
- Illumina
- Year
- Service
- Software Engineering
Overview
TruSight™ Software Suite is designed to tackle the challenges posed by the massive volumes of data generated by whole-genome sequencing (WGS) and whole-exome sequencing (WES), which are powerful methods for identifying genetic variants linked to rare diseases. These methods have demonstrated significantly higher diagnostic utility compared to traditional chromosomal microarray (CMA), but require robust and efficient data analysis tools to translate the raw sequencing data into interpretable results.
The software suite integrates with Illumina sequencing systems and provides a comprehensive set of tools for secondary and tertiary analysis, including alignment, variant calling, annotation, and visualization, powered by the DRAGEN Bio-IT Platform. During my time at Illumina, I contributed to development of key functions of the software including customizable case management, variant interpretation, and machine learning-enhanced variant analysis. We worked alongside our clinical partners to align software functionality with healthcare needs.
By enabling a high-resolution view across the entire genome, TruSight Software Suite plays a crucial role in advancing the diagnostic capabilities for rare diseases. Its comprehensive, integrated approach not only enhances the efficacy of genomic data analysis, but also has the potential to transform patient care by facilitating faster, more accurate diagnoses and personalized treatment strategies.
What we did
- Software Engineering
- Machine Learning