Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

摘要

BackgroundOur genomewide studies support targeted testing the most frequent genetic diseases by patient category: (1) pregnant patients, (2) at-risk conceptuses, (3) affected children, and (4) abnormal adults. This approach not only identifies most reported disease causing sequences accurately, but also minimizes incorrectly identified additional disease causing loci.