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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Vydáno v:Nat Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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On-line přístup: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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