Clinical Informatics
NCGENES
Description
North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing (NCGENES) is a framework for medical decision support that tackles one of the biggest challenges in genomic medicine – the need to sort through millions of genetic variants to identify the very few with actual clinical relevance.
RENCI's Role
NCGENES helps researchers and clinicians mine genomic data through systemetized genomic analysis and high performance computing, providing clinicians with annotated reports describing how patients’ genes might affect their chance of developing certain diseases or their likely response to treatment.
This bioinformatics infrastructure-based process breaks new ground by using whole exome sequencing as a tool in diagnosing disease, revealing its genetic markers, and identifying patients who are at risk. It provides an innovative computing infrastructure that integrates technologies in an open-source, reusable system for secure, large-scale genomic research; includes secure virtual workspace environments that researchers and clinicians can use in any setting with an Internet connection; and tracks thousands of participants across four different studies.
RENCI researchers:
- Set up a secure genetic database to serve as a baseline for each patient’s whole exome sequencing, which is continuously updated as researchers pinpoint genes that cause disease when mutated.
- Implemented an analysis system that classifies the genetic data as actionable data that can be used to develop patient treatment plans, un-actionable data when the identified disease has no known treatments, or data that is not yet fully understood.
- Developed an automated workflow that tracks a patient’s genetic information from the initial consultation, to genetic sample preparation made at various labs, to high throughput sequencing and data analysis. The system alerts the labs when samples leave one site to head to another and allows researchers to easily locate all samples.
