Article

Phecoder: semantic retrieval for auditing and expanding ICD-based phenotypes in EHR biobanks

2026-01-11

Abstract excerpt

<h4>Background</h4> Electronic health record (EHR)–based phenotyping underpins genome-wide association studies, yet current ICD-code phenotypes rely heavily on manually curated lists such as Phecodes. These definitions are labour-intensive to maintain, inherently subjective, and may omit clinically relevant diagnostic codes, reducing study power. Advances in text embedding models offer an opportunity to automate...

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Literature Corpus work: 9ca6e4e4-f693-568a-8497-5dd14d8e84aa
DOI: 10.64898/2026.01.08.26343725

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