Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identification
Gregory J. Hogan, Valentina S. Vysotskaia, Stefanie Seisenberger, Peter V. Grauman, Kyle A. Beauchamp, Kevin R. Haas, Sun Hae Hong, David Jennions, Diana Jeon, Shera Kash, H. Henry Lai, Laura M. Melroy, Mark R. Theilmann, Clement S. Chu, Saurav Guha, , Dale Muzzey
This paper validates an expanded carrier screen with high sensitivity and specificity, showing significant improvements in detecting fetal disease risk through CNV calling and challenging conditions.
Clinical Chemistry · May 14, 2018Peer-reviewedGenetics