Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
Yusuph MavuraNuriye Sahin-HodoglugilUgur HodoglugilMark KvalePierre-Marie MartinJessica Van ZiffleW Patrick DevineSara L AckermanBarbara A KoenigPui-Yan KwokMary E NortonAnne SlavotinekNeil RischPublished in: medRxiv : the preprint server for health sciences (2023)
In this empirical study of ES for undiagnosed pediatric and prenatal genetic conditions, genetic ancestry was not associated with the likelihood of a positive diagnosis, supporting the ethical and equitable use of ES in diagnosis of previously undiagnosed but potentially Mendelian disorders across all ancestral populations.