Defining Disease

To drive large-scale, data-driven research, we’re working to develop and share reusable definitions of cardiovascular diseases in computable forms. These definitions enable researchers to interpret and use health data, leading to more accurate and reproducible studies. 

Theme Lead: Professor Spiros Denaxas

Large-scale cardiovascular research relies on reusable and standardised disease definitions that can be applied across datasets to ensure consistency and reproducibility. By developing, validating, and sharing phenotyping algorithms, we enable researchers to harness routine health data for more accurate, efficient, and impactful studies.  

What we do

We support the research community by developing, validating, and sharing cardiovascular disease definitions that are consistent, reusable, and accessible. Through collaboration with clinicians, data scientists, and researchers, we’re working to create robust phenotyping algorithms and best-practice frameworks that enhance cardiovascular research.  

Key areas of work

Establishing best practices and standards 

We’ve worked with researchers and clinicians to define best practices for creating, storing, and sharing phenotyping algorithms using electronic health record (EHR) data. Our white paper outlines key recommendations to ensure that phenotyping algorithms are findable, accessible, interoperable, and reusable, meeting the needs of the cardiovascular research community.  

We have developed guidance for researchers on phenotyping. 

Making disease definitions available for researchers 

We work with experts to develop validated phenotyping algorithms, many of which have emerged from research projects within CVD-COVID-UK. These definitions are now openly available in the BHF Data Science Centre Phenotype Library, which includes over 90 cardiovascular phenotypes, covering:  

  • Core cardiovascular diseases  
  • Medications  
  • Comorbidities (e.g., COVID-19)  
  • Risk factors  

Access the BHF Data Science Centre collection in the Library here.

Developing frameworks and tools for phenotype creation 

We’ve established a framework for building and applying phenotyping algorithms, ensuring consistency across research studies. This approach has been successfully used in collaboration with our clinical trials work in the SCORE-CVD project, which defines clinical trial outcomes in cardiovascular research. If you’re interested in finding out how you could apply this framework in your own research, please contact us.  

We’ve also developed a code list comparison tool to help researchers:   

  • Compare different phenotyping algorithms   
  • Assess code variations between datasets  
  • Select the most suitable algorithm for their study

Assessing phenotyping algorithms and datasets

We systematically evaluate the accuracy and completeness of cardiovascular event recording and outcomes in different datasets. Our initial analysis focused on the Sentinel Stroke National Audit Programme (SSNAP) dataset, comparing stroke event data with electronic health records.  

This research (manuscript in preparation) highlighted important variations in stroke event recording, demonstrating how linked data can improve stroke measurement and healthcare quality assessment at a lower cost. Our next focus is heart failure phenotyping.  

Generating population-wide insights on cardiovascular diseases 

We are working to define and provide information on cardiovascular diseases within the Disease Atlas, an ambitious project leveraging health data from 56 million people to generate new insights into diseases.  

This work could change the way we think about and research diseases, and aims to:  

  • Provide comparative insights into cardiovascular health across different populations  
  • Inform policy and healthcare practices  
  • Unlock new opportunities to improve patient outcomes  

Enhancing international research collaboration 

We’re making it easier for researchers to compare cardiovascular studies across countries by:  

  • Collaborating with global leaders, such as Vanderbilt/eMERGE/All of Us  
  • Standardising cardiovascular phenotype definitions between UK Biobank and Germany’s NAKO study  

Areas of work

Find out more about our data-led research.