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Altum: Redefining Bioinformatics Analysis and Genomics in the Cloud

Scalability and resilience in genetic sequencing can only be achieved when digitalization, data, and automation become the infrastructure’s backbone.

Thanks to the strategic vision of Altum Sequencing, today we present the cloud platform that is redefining workflows for genetic diagnosis, primer design, and Minimal Residual Disease (MRD) monitoring.

Moving from manual processes on local workstations to a fully automated cloud environment, we have optimized genomic sample processing:

  • ~1,000 annual hours saved in analyst labor, freeing the bioinformatics team from routine file preparation tasks.
  • Compute time reduction for Diagnosis from 3 hours to just ~20 minutes per execution.
  • 1,229 annual hours saved in compute capacity for the Monitoring (MRD) phase, reducing flows that took 5 hours down to just 5 minutes.
  • Automated integration of 3 critical flows (Diagnosis, Primer Design, and MRD Monitoring), processing complex files such as VCF, BAM, and FASTQ.
Altum: Redefining Bioinformatics Analysis and Genomics in the Cloud,

How Do We Make It Possible?

  • 100% event-driven architecture based on Amazon EventBridge and Amazon S3 events, orchestrating complex workflows and error handling via AWS Step Functions.
  • Scalable, serverless processing supported by AWS Lambda clusters (deployed via Docker images from Elastic Container Registry) and AWS Batch for more compute-intensive tasks or integration with external CLI tools (like Ion Reporter).
  • Optimized Genomic Data Lake structuring and adapting global databases (like COSMIC or LIMS) using AWS Glue and an ultra-fast analytical query engine with Amazon Athena under a modern Apache Iceberg table format.
  • Full-cycle automation, including automated generation of medical reports (interactive and dynamic PDFs) and a robust, integrable human approval and dynamic signature system for expert validation.

«The results are tangible: drastically lower analysis times, greater clinical traceability, a better experience for bioinformaticians, and a much more resilient data infrastructure.»

And this is just the beginning: the technology roadmap points toward an increasingly autonomous and intelligent network, ready to scale its genomic knowledge base and accelerate medical research.

A huge thank you to Altum Sequencing for their trust and leadership, to AWS for being the key technology partner, and to the entire GALEO team for making it possible.