Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation

The accurate clinical interpretation of human sequence variation is foundational to personalized medicine. This remains a pressing challenge, however, as genome sequencing becomes routine and new functionally undefined variants rapidly accumulate. Here, we describe a platform for the rapid generatio...

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Detalles Bibliográficos
Autores principales: Erwood, Steven, Brewer, Reid A., Bily, Teija M.I., Maino, Eleonora, Zhou, Liangchi, Cohn, Ronald D., Ivakine, Evgueni A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886506/
https://www.ncbi.nlm.nih.gov/pubmed/31754021
http://dx.doi.org/10.1101/gr.250720.119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886506/
https://www.ncbi.nlm.nih.gov/pubmed/31754021
http://dx.doi.org/10.1101/gr.250720.119

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