Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells

BACKGROUND: The progression towards low-cost and rapid next-generation sequencing has uncovered a multitude of variants of unknown 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 de...

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Publicat a:Circulation
Autors principals: Ma, Ning, Zhang, Joe, 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.
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6298866/
https://ncbi.nlm.nih.gov/pubmed/29914921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCULATIONAHA.117.032273
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