Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants
Huaizhi Huang, Chunling Hu, Jie Na, Steven N. Hart, Rohan David Gnanaolivu, Mohamed Abozaid, Tara Rao, Yohannes A. Tecleab, Tina F. Pesaran, Paulo Cilas Morais Lyra Junior, Rachid Karam, Siddhartha Yadav, Susan M. Domchek, Miguel de la Hoya, Mark E. Robson, , Fergus J. Couch
The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.
bioRxiv · Dec 14, 2023 · PreprintGenomics