GeneticsbioRxivPreprint
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…·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.
DOI 10.1101/2021.12.23.474057