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Genetics in Medicine
Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a patient's self-reported ethnicity. Ethnicity, which can reflect both genetic ancestry and cultural factors (e.g., religion), may be imperfectly known or communicated by patients. We sought to quantitatively assess the efficacy and equity with which ethnicity-based carrier screening captures recessive disease risk. For 93,419 individualsdoi:10.1038/s41436-020-0869-3 pmid:32595206 fatcat:fxblo4tmqvez5hlecwhjht27d4