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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Nat Genet
Glavni autori: 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 pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items