Systematic Design and Comparison of Expanded Carrier Screening Panels
Kyle A. Beauchamp, Dale Muzzey, Kenny K. Wong, Gregory J. Hogan, Kambiz Karimi, Sophie I. Candille, Nikita N. Mehta, Rebecca Mar‐Heyming, Kristjan Eerik Kaseniit, Hyunseok Peter Kang, Eric A. Evans, James D. Goldberg, Gabriel A. Lazarin, Imran S. Haque
The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.
Genetics in Medicine · Jun 22, 2017Peer-reviewedGenetics