DNAi's Floxgen Aggregation offered a multifaceted solution to IMTM's challenges. Floxgen automates genomic data processing, transforming raw variants into actionable insights using Apache Hail and ElasticSearch for rapid exploration and efficient storage. Its unique one-click recalculation feature allows instant updates whenever new samples are added or specific populations need to be analyzed.
The workflow starts with uploading VCF files, followed by ingestion into a big data database and essential pre-processing. Specialized plugins annotate variants for clinical context, and then aggregation and statistical calculations reveal patterns and associations. Optimized data simplify search, and scientists can access information through either ElasticSearch, a relational database, or the GraphQL API.
Finally, a user-friendly web portal empowers scientific exploration through powerful search capabilities. Floxgen's tailored technology stack addressed IMTM's data volume, storage, and resource constraints, setting the ideal environment for a complex Czech genomic database.