Article
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Clinical chemistry - 1 Jul 2018
Hogan Gregory J, Vysotskaia Valentina S, Beauchamp Kyle A, Seisenberger Stefanie, Grauman Peter V, Haas Kevin R, Hong Sun Hae, Jeon Diana, Kash Shera, Lai Henry H, Melroy Laura M, Theilmann Mark R, Chu Clement S, Iori Kevin, Maguire Jared R, Evans Eric A, Haque Imran S, Mar-Heyming Rebecca, Kang Hyunseok P, Muzzey Dale
Abstract excerpt
BACKGROUND: By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants....
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