A novel high-throughput assay using mixed genomic DNA for fast screening germline pathogenic variants in breast cancer susceptibility genes
Qiting Wan, Li Hu, Lu Yao, Jiuan Chen, Jie Sun, Juan Zhang, Ye Xu, Yuntao Xie
This paper introduces a high-throughput assay for detecting germline pathogenic variants in breast cancer susceptibility genes using mixed genomic DNA samples, achieving 89.9% recall and 92.9% precision when mixing 20 samples.
bioRxiv · Dec 23, 2021 · PreprintGenetics