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https://www.selleckchem.com/pr....oducts/bgb-16673.htm
Families with an adverse history of monogenic disease focus on single-gene diagnosis instead of low-depth whole-genome sequence, during subsequent pregnancies. The aim of this study was to assess the potential usefulness of low-depth whole-genome sequencing (copy number variant sequencing [CNV-seq]) detection following monogenic disease exclusion in prenatal diagnosis. A total of 285 families with a history of monogenic disease (of 41 different types; eliminated during the current pregnancy) were recruited and retrospectively analyzed