Article

Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screening

2022-09-04

Abstract excerpt

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) rat...

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Literature Corpus work: ef0e5e36-4859-5620-b2a2-12c1741e9210
DOI: 10.1101/2022.09.02.22279503

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