Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screening
Ryan A. Shewcraft, Mitchell K. Higashi, Yeting Zhang, Jonathan Tyler, Lisa Y. Lau, Bryn D. Webb, Seungwoo Lee, Rajasekar Ramasamudram-Chakravarthi, Teresa A. Cacchione, Alan Barry Copperman, Ashley H. Birch, Marra S. Francis, Lisong Shi, Lisa J. Edelmann, Rong Chen, , Eric E. Schadt
The paper evaluates a comprehensive pan-ethnic carrier screening panel across 282 monogenic diseases in 397,540 patients, showing it identifies 10-times more at-risk carrier couples than a two-gene panel and provides cost savings.
medRxiv · Sep 2, 2022 · PreprintGenetic & Genomic Medicine