The Genomic Data Analysis Centre (GDAC)

GDAC operates at the interface of clinical service delivery and translational research, enabling the development and application of advanced analytical methods in real-world clinical contexts. 

Key areas include: 

• Development and optimisation of bioinformatics pipelines for clinical genomics
• Integration of emerging analytical approaches 
• Evaluation and benchmarking of tools and workflows for clinical adoption
• Translation of research methodologies into validated, service-ready pipelines
• Leading and contributing to collaborative research programmes and publications 

This approach ensures that innovation is systematically evaluated and translated into clinically robust and scalable solutions aligned with NHS requirements. 

Since 2019, GDAC has supported NHS Scotland rare developmental disease diagnostic pathways through the Trio Whole Exome Sequencing (Trio WES) service, integrated within NHS Clinical Genetics workflows (UKAS accredited in 2026).

Core activities include:

• Clinically approved data processing and analysis pipelines for exome sequencing
• Variant annotation, filtering, prioritisation, and structured interpretation outputs tailored to phenotype by utilization of growing list of relevant gene panels (e.g., developmental disorders, foetal anomalies, inborn errors of metabolism)
• Delivery of candidate variant lists with supporting evidence to NHS clinical teams for review
• Reproducible, version-controlled workflows with documented validation and controlled updates

Clinical responsibility for interpretation and final reporting remains with the relevant NHS clinical service, ensuring clear governance and accountability.

Workflow of the NHS Scotland Trio WES Service

This workflow outlines the integration of clinical genetics services, sequencing, and bioinformatics analysis to support robust and reproducible genomic diagnostics across NHS Scotland.

In 2025, GDAC was awarded Scottish Government funding to establish a cancer genomics diagnostic analysis platform, extending Trio WES Service remit to oncology and the development of national analytical infrastructure for cancer genomics within NHS Scotland.

This programme builds on GDAC’s established rare disease capabilities and focuses on:

• Development and deployment of scalable, clinically governed analytical pipelines and data platforms for oncology
• Support for somatic variant detection, annotation, interpretation, and clinically relevant reporting outputs
• Establishment of service-ready workflows aligned with NHS clinical, technical, and governance requirements
• Implementation of reproducible, validated pipelines with controlled change management and auditability
• Enabling national capability for cancer genomics diagnostics and future service expansion within NHS Scotland

GDAC’s rare disease service builds on the internationally recognised Deciphering Developmental Disorders (DDD) programme and the DECIPHER platform, ensuring continuity with established best practices in rare disease genomics. GDAC maintains active collaboration with DECIPHER to support alignment with evolving international standards in variant interpretation and clinical genomics. 

GDAC staff also contribute to national service development through active membership in the Scottish Strategic Network for Genomic Medicine (SSNGM). Through this engagement, GDAC supports the development and harmonisation of standards, policy, and strategic direction for genomic medicine across Scotland.