An operational framework for recall-by-genotype studies shows how diverse clinical biobanks can recontact variant carriers for deep psychiatric phenotyping.
Key Takeaways
- Researchers recontacted 892 BioMe participants, including 335 rare CNV carriers, for targeted assessments
- Direct clinical and cognitive phenotyping revealed psychiatric and developmental traits missing from EHR data
- Cohort reflected diversity with 37% African ancestry, 34% Hispanic, and 26% European ancestry