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Paper Details

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.
Genet Med
5
2021
BRCA1, BRCA2, GCK, HBB, LDLR, MIP, MIP rare variants, PKD1, cataracts, cystic kidney disease, diabetes mellitus, exome, genetic conditions, participants, rare variants, thalassemia minor and intermedia

Datasets

Release 1.2