Published:
January 10, 2024
Timeline:
Client:
Brigham/Seqr

Genomic Research Cloud Tool – US Client

Our team implemented and hosted a customized instance of an open-source web tool, originally developed by a notable research institute, for our client, a leading research organization. This tool, designed for rare disease genomics, plays a crucial role in understanding genomic disease occurrence in populations. We enriched the core project with significant contributions, including a pipeline for data ingestion, UX enhancements using React, and deploying the app on AWS with advanced features like EC2, Redis, and CloudBuild. Our use of AWS ElasticSearch, VPC, IAM, Docker, and Kibana demonstrates our commitment to delivering sophisticated, secure, and user-friendly genomic research tools. 

Implementing a Customized Genomic Research Tool 

In our collaboration with a prestigious research institute, we undertook the task of implementing and hosting a specialized instance of an open-source web-based tool for rare disease genomics. This tool is critical in assessing the likelihood of genomic diseases within specific populations. Our team not only deployed the application but also contributed significant enhancements to the core project. 

Enhancing Data Ingestion and User Experience 

A key aspect of our contribution was the development of a pipeline for efficient data ingestion of *vcf files, essential for the analysis of genomic data. We recognized the importance of user experience in the effectiveness of the tool and implemented UX changes using React, a leading framework for building interactive user interfaces. These enhancements made the tool more accessible and user-friendly, facilitating researchers in their genomic studies. 

Advanced Deployment and Security on AWS 

Deploying the application on AWS, we utilized services like EC2, Redis, and CloudBuild, ensuring robust performance and scalability. The use of AWS ElasticSearch played a pivotal role in data querying and analysis, enabling researchers to sift through vast genomic datasets effectively. We placed a strong emphasis on security and resource management, setting up resource isolation and network segmentation using VPC and subnets. Additionally, permission management was meticulously handled through IAM, ensuring secure and controlled access to the tool. 

Streamlining Operations with Docker and Kibana 

To optimize deployments, we dockerized the application, which significantly sped up the deployment process. We utilized ECR for storing and managing Docker container images, streamlining the management and deployment of the app’s updates. Furthermore, we integrated Kibana for data visualizations, providing researchers with powerful tools to visualize and interpret complex genomic data effectively. 

In conclusion, our project with this esteemed research institute underscores our expertise in customizing and deploying sophisticated tools for genomic research. By enhancing the tool’s data processing capabilities, user experience, and deploying it on a secure and scalable cloud infrastructure, we have significantly contributed to advancing the field of rare disease genomics. Our efforts demonstrate a commitment to supporting groundbreaking research with innovative technological solutions.