Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening
R. Shraga, Sarah Yarnall, Sonya Elango, Arun Prasad Manoharan, Sally Ann Rodriguez, Sara L. Bristow, Neha Kumar, Mohammad Niknazar, David I. Hoffman, Shahin Ghadir, Rita Vassena, Serena H. Chen, Avner Hershlag, JAMIE A. GRIFO, Óscar Puig
The paper evaluates the reliability of self-reported ethnicity versus genetic ancestry in carrier screening and finds discrepancies that affect carrier risk estimation.
BMC Genetics · Nov 27, 2017Peer-reviewedGenetics