Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

Determining the pathogenicity of genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes requires generalizable, scalable assays. We describe Variant...

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Detalles Bibliográficos
Autores principales: Matreyek, Kenneth A., Starita, Lea M., Stephany, Jason J., Martin, Beth, Chiasson, Melissa A., Gray, Vanessa E., Kircher, Martin, Khechaduri, Arineh, Dines, Jennifer N., Hause, Ronald J., Bhatia, Smita, Evans, William E., Relling, Mary V., Yang, Wenjian, Shendure, Jay, Fowler, Douglas M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980760/
https://www.ncbi.nlm.nih.gov/pubmed/29785012
http://dx.doi.org/10.1038/s41588-018-0122-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980760/
https://www.ncbi.nlm.nih.gov/pubmed/29785012
http://dx.doi.org/10.1038/s41588-018-0122-z

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