| Title: | Mapping the Read2/CTV3 controlled clinical terminologies to Phecodes in UK Biobank primary care electronic health records: implementation and evaluation. |
| Journal: | AMIA Annual Symposium Proceedings |
| Published: | 21 Feb 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/35308936/ |
| Citations: | 6 (4 in last 2 years) as of 8 Aug 2024 |
Publication 12520
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Abstract
Objective: To establish and validate mappings between primary care clinical terminologies (Read Version 2, Clinical Terms Version 3) and Phecodes. Methods: We processed 123,662,421 primary care events from 230,096 UK Biobank (UKB) participants. We assessed the validity of the primary care-derived Phecodes by conducting PheWAS analyses for seven pre-selected SNPs in the UKB and compared with estimates from BioVU. Results: We mapped 92% of Read2 (n=10,834) and 91% of CTV3 (n=21,988) to 1,449 and 1,490 Phecodes. UKB PheWAS using Phecodes from primary care EHR and hospitalizations replicated all (n=22) previously-reported genotype-phenotype associations. When limiting Phecodes to primary care EHR, replication was 81% (n=18). Conclusion: We introduced a first version of mappings from Read2/CTV3 to Phecodes. The reference list of diseases provided by Phecodes can be extended, enabling researchers to leverage primary care EHR for high-throughput discovery research.</p>
8 Keywords
- Biological Specimen Banks
- Electronic Health Records
- Genome-Wide Association Study
- Humans
- Phenotype
- Primary Health Care
- United Kingdom
- Vocabulary, Controlled
11 Authors
- Spiros Denaxas
- Ge Liu
- Qiping Feng
- Ghazaleh Fatemifar
- Lisa Bastarache
- Eric V Kerchberger
- Aroon D Hingorani
- Tom Lumbers
- Josh F Peterson
- Wei-Qi Wei
- Harry Hemingway
Enabling scientific discoveries that improve human health