Last update: 20240716
Download the whitepaper directly here.
Or visit the github repository here.
Overview
The Precision Medicine Unit takes a new style in pediatric healthcare. This whitepaper presents our systematic approach. It departs from the traditional project-based research model, adopting a continuous, structured workflow that ensures consistency, reliability, and reproducibility across all levels of operation.
Figure 1: Precision medicine unit overview. The unit needs illustrate the management philosophy for minimal disruption for technical progress.
Why the PMU is unique
Unlike traditional research projects which often start from scratch, our unit operates on a model of systematic and structured workflow crucial for effective precision medicine. This method ensures that every element of our work - from data collection to clinical application - is interconnected and efficiently managed. Our approach allows us to maintain consistency across various projects, enhancing the reproducibility and reliability of our results. Each project within the unit is a continuation of an evolving system, which is documented and audited for compliance with the latest regulatory standards, particularly the In Vitro Diagnostic Medical Devices Regulation (IVDR).
Why This Matters
The structured approach of our Precision Medicine Unit ensures that all processes, from genomic data analysis to clinical implementation, are not only compliant with regulatory frameworks but also optimised for adaptation to new challenges and innovations. This model is crucial so that every element of our work remains connected so that we can run on the basis of single-source management and everything-as-code.
Figure 2. The database relationship network plot visually represents the interconnectedness of various elements within the database, in this case DNAsnake_v1.0. The ability to make this plot demonstrates how different pieces of data are related and how they flow through the analysis pipeline. This plot is made from variables which retrieve values from an SQL database and illustrates how the connectedness is used to audit any element at any stage of our analysis.