Diagnostic yield of genetic screening in a diverse, community-ascertained cohort
Nandana D. Rao, Jailanie Kaganovsky, Emily A. Malouf, Sandy Coe, Jenna Huey, Darwin Tsinajinne, Sajida Hassan, Kristine M. King, Stephanie Malia Fullerton, Annie Chen, Brian H. Shirts
This study evaluates the diagnostic yield and enrollment rates of population genetic screening in a diverse cohort, finding 2.6% actionable genetic findings but challenges in recruitment and sample collection.
medRxiv · Dec 20, 2022 · PreprintGenetic & Genomic Medicine