Accurate classification of BRCA1 variants with saturation genome editing

Variants of uncertain significance (VUS) fundamentally limit the clinical utility of genetic information. The challenge they pose is epitomized by BRCA1, a tumor suppressor in which germline loss-of-function variants predispose women to breast and ovarian cancer. Although BRCA1 has been sequenced in...

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Hlavní autoři: Findlay, Gregory M., Daza, Riza M., Martin, Beth, Zhang, Melissa D., Leith, Anh P., Gasperini, Molly, Janizek, Joseph D., Huang, Xingfan, Starita, Lea M., Shendure, Jay
Médium: Online Článek Text
Jazyk:English
Vydáno: 2018
Témata:
Article
On-line přístup:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181777/
https://www.ncbi.nlm.nih.gov/pubmed/30209399
http://dx.doi.org/10.1038/s41586-018-0461-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181777/
https://www.ncbi.nlm.nih.gov/pubmed/30209399
http://dx.doi.org/10.1038/s41586-018-0461-z

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