GeneticsClinical ChemistryPeer-reviewed
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…·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.
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