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Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screening
[article]
2022
medRxiv
pre-print
We characterize the clinical utility and economic benefits of a comprehensive pan-ethnic carrier screening panel that spans 282 monogenic disease conditions in a large, diverse population of 397,540 reproductive health patients. For 142,049 of these patients, we were able to accurately estimate genetic ancestries across 7 major population groups. We examined individual carrier and at-risk carrier couple (ARCC) rates with respect to self-reported and genetic ancestries across ancestry-specific
doi:10.1101/2022.09.02.22279503
fatcat:jrs6x52rsjdexdhv2ead2o4ila