Abstract
Objective
The UK Biobank provides a rich collection of longitudinal clinical data coming from different healthcare providers and sources in England, Wales, and Scotland. Although extremely valuable and available to a wide research community, the heterogeneous dataset contains inconsistent medical terminology that is either aligned to several ontologies within the same category or unprocessed. To make these data useful to a research community, data cleaning, curation, and standardization are needed. Significant efforts to perform data reformatting, mapping to any selected ontologies (such as SNOMED-CT) and harmonization are required from any data user to integrate UK Biobank hospital inpatient and self-reported data, data from various registers with primary care (GP) data. The integrated clinical data would provide a more comprehensive picture of one’s medical history.
Materials and methods
We evaluated several approaches to map GP clinical Read codes to International Classification of Diseases (ICD) and Systematized Nomenclature of Medicine Clinical Terms (SNOMED CT) terminologies. The results were compared, mapping inconsistencies were flagged, a quality category was assigned to each mapping to evaluate overall mapping quality.
Results
We propose a curation and data integration pipeline for harmonizing diagnosis. We also report challenges identified in mapping Read codes from UK Biobank GP tables to ICD and SNOMED CT.
Discussion and conclusion
Some of the challenges–the lack of precise one-to-one mapping between ontologies or the need for additional ontology to fully map terms–are general reflecting trade-offs to be made at different steps. Other challenges are due to automatic mapping and can be overcome by leveraging existing mappings, supplemented with automated and manual curation.
Publisher
Public Library of Science (PLoS)
Reference27 articles.
1. UKB Repeat Assessment Data. Available: http://biobank.ctsu.ox.ac.uk/~bbdatan/Repeat_assessment_doc_v1.0.pdf
2. UK Biobank data dictionary showcase. Available: https://biobank.ndph.ox.ac.uk/showcase/
3. NHS Digital Technology Reference data Update Distribution (TRUD). Available: https://isd.digital.nhs.uk/trud3/user/guest/group/0/home
4. Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants;DJM Crouch;Proc Natl Acad Sci U S A,2020
5. Linking common human diseases to their phenotypes; development of a resource for human phenomics;Ş Kafkas;J Biomed Semant,2021
Cited by
6 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献