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...

全面介绍

书目详细资料
Autores principales: 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
格式: Online 文件 Texto
语言:English
出版: 2018
主题:
Article
在线阅读: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

因特网

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

相似书籍