Article
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
Circulation - 4 Dec 2018
Ma Ning, Zhang Joe Z, Itzhaki Ilanit, Zhang Sophia L, Chen Haodong, Haddad Francois, Kitani Tomoya, Wilson Kitchener D, Tian Lei, Shrestha Rajani, Wu Haodi, Lam Chi Keung, Sayed Nazish, Wu Joseph C
Abstract excerpt
BACKGROUND: The progression toward low-cost and rapid next-generation sequencing has uncovered a multitude of variants of uncertain significance (VUS) in both patients and asymptomatic "healthy" individuals. A VUS is a rare or novel variant for which disease pathogenicity has not been conclusively demonstrated or excluded, and thus cannot be definitively annotated. VUS, therefore, pose critical clinical...
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