51 today releases a major upgrade to its ,substantially improvingthe sharing of electronic phenotypes (definitions of how health data can be used to measure real-world concepts relevant to research and clinical care). 

This upgrade transforms theLibraryfromits prototype as adocumentation resource to apowerfulcontent creation and validation resource. The 51 Phenomics team havedevelopeda modular, open-development, open-APIs, open standards infrastructure which can be enhanced and leveraged by thewider51researchcommunity.

The Phenotype Libraryis the largest nationalstandards-driven library of citable phenotyping algorithms, metadata and tools for defining humandisease, lifestyle risk factors and biomarkers in electronic health records (EHR) research.TheLibrarynowcurates over 100,000 clinicalontologyterms into 753 phenotypesfrom numerous contributing organisations across the UK, spanning critical disease areas including heart disease, cancer, COVID-19 and others.

Phenotypes are defined against 28 different research datasets and 14 coding systems, with more being added frequently. New contributions are welcome from anyone working in the field.

TheLibraryis interoperable with other tools and resources, making it part of a broader ecosystem driving the next generation of health research methods. It is currently integrated with the metadata catalogue of the , as well as , a tool enabling workflow-based computable phenotype definitions.

Further integrations with other tools and analysis workflows are possible using the  and client R package. We look forward to collaborating with others to use this resource on research and clinical settings with the potential to improve patient health and well-being.

Professor Harry Hemingway, Director of Health Data Research UK London:

“This substantial upgrade inthe 51 Phenotype Library is a clear step forward in providing patients and clinicians with useful data-driven definitions of the diseases and conditions that matter.Now with more than 700 phenotypes, there is a much wider coverage of diseases, as well asinteroperability with tools to generatefurtherphenotypes using electronic health records for better healthcare and research.”

Colin Wilkinson, patient and member of the Phenomics for Patient Action Group

“Understanding disease and developing new treatments starts with a shared understanding of what each disease looks like. To unleash the power of health data we need that shared understanding to be in terms of things we find in health records. This catalogue is growing and this latest launch is a huge step forwards towards a full catalogue of human disease. Its potential is enormous.”

For more information, visit the Phenotype Library at

For further enquiries, please contact: Natalie Fitzpatrick,51 Phenomics Programme Managern.fitzpatrick@ucl.ac.uk

Phenomics explained

APhenotypeis anobservable and measurable piece of information that is relevant to health or healthcare. For example, it can be a disease (e.g.type 2 diabetes), a blood pressure measurement, a blood sugar value or a prescription of antibiotics.

The study of phenotypes is known asPhenomics, and multiple phenotypes constitute thePhenome.

BecausePhenomicslooks atthecharacteristics of multiple health conditions simultaneously, it provides a wider view, which iscomplementary toapproachesthatfocus on one disease or one clinical speciality at a time.It allowsresearcherstodevelop consistent ways to define and understand the risk to an individual’s healthacross a widerange of diseases.

The 51 Phenotype Library

Theenormous amount of health data is containedwithin Electronic Health Records (EHR) – information that is captured and recorded when a patient visits a health care settinge.g.symptoms, diagnoses, test results or prescriptions–is complex and often messy.

Our researchershave developed specialisedalgorithms that enablephenotypesto beextractedfrom this data. Thesealgorithmsidentify and extract data from medical records usingtheclinical codes which are the building blocksof how information is recorded in healthcare (for example ICD-10).

The51 Phenotype Libraryis acatalogue ofthesedefinitionswhichcanthenbeused to supportresearch.Theinformation and tools contained in theLibrarysupport faster, higher quality, and more transparent research–usingand maximising the value of the data contained inElectronic Health Records; therebyansweringimportant questions that can improve health and healthcare.

The51 Phenotype Libraryis a freely accessible platform that welcomes contributions from anyone in the field and makes content accessible to researchers, health care professionals, patients, and the public. Importantly, the Library can link to many other tools and resources which is important for driving the next generation of health research methods.

The Phenotype Library is alsonowintegrated with the, which holds extensive information about UK health data sources, andPhenoflow, a tool that enables the definitions to be automatically executed on health data.