A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels
Rotem Ben‐Shachar, Ashley Svenson, James D. Goldberg, Dale Muzzey
The paper evaluates the impact of carrier rate thresholds on expanded carrier screening panels and finds that stricter thresholds reduce at-risk couple detection.
Genetics in Medicine · Feb 28, 2019Peer-reviewedGenetics