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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Bibliografske podrobnosti
izdano v:Nat Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5980760/
https://ncbi.nlm.nih.gov/pubmed/29785012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-018-0122-z
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