Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record-Linked Biobanks.
Tran Jessica H, Kang Joyce, Han Elaine, Gupta Urvi, Seresirikachorn Kasem, Vy Ha My T et al.
This study found glaucoma polygenic risk scores performed similarly using ICD codes or manual review. However, ICD codes alone have low specificity (44-53%) for true glaucoma, requiring caution in their use.