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Modernising data for a genome institute

Transforming scientific discovery: Modernising data for a genome research institute

When a global genome research leader needed to break down research silos and modernise its data capability, Definia delivered a strategic framework that unified 40+ years of genomic data and secured approval for the institute’s largest-ever transformation programme.

Large scale transformation

Definia was trusted to deliver the client’s largest ever transformation programme.

40+ years of genomic data

Decades of genomic data unified into a single platform.

Full programme roadmap

Definia secured senior leadership team approval to extend the full programme roadmap.

Define

Our client is a world leader in genome research delivering insights into human, vertebrate species and pathogen biology, sequencing millions of DNA samples each week and 10bn bases of raw sequence data per day.

The client faced significant challenges from scientific research developed independently by different teams, resulting in siloed working practices, technology fragmentation and debt. This impeded their ability to ensure regulatory compliance, support innovative science and adopt leading-edge techniques, whilst increasing manual administrative burden and costs.

As a result, our client instigated their largest transformation programme in history to unify and modernise their process, technology and data capability holistically across the enterprise.

Design

Our client wanted to become a more agile business by developing and scaling new data generation and analysis pipelines to reduce time to impact, with transformative datasets and insights across all divisions. We defined the process and delivered the technology, data and AI strategy to underpin this future vision.

Our scope encompassed:

  • Strategic planning: Creating a Laboratory Information Systems transformation roadmap, plus a unified data model and advanced analytical capability to consume over 40 years of genomic history in real-time.
  • Technology evaluation: Process improvement, workflow reengineering, automation implementation and resource optimisation.
  • Programme management: Driving the approach, scoping and implementation of the solution.

Deliver

We successfully delivered the initial analysis, diagnostics, strategy and roadmap phases, which included analysing processes, systems and data.

We also outlined the strategic technology and data framework with the following core elements:

  • Sample and study management – A single sample registry creating a unified view of samples, derivatives and associated data, enhancing management, QC and data sharing. 
  • Study workflow automation and integration – Reducing reliance on costly manual processing through seamless process and system integration, providing accessible, research-ready data. 
  • Scientific analysis and study publication – ‘Touch once, take all’ approach where data is captured once with complete metadata and automatically ingested into a consolidated data warehouse, enabling seamless reuse and sharing whilst reducing costs. 
  • AI capability enabler – Increasing maturity of AI capability and applicability. 
  • DevOps – Delivering self-service capability for scientists to create autonomous research units.

Following the success of this partnership, Definia secured senior leadership team approval to extend the full programme roadmap.

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