Identification and Characterization of Rare Pathogenic Genetic Variants Associated with Breast Cancer Susceptibility in 1000 Genome and gnomAD Population
Kanishk Yadav, Abhishek Prasad
The paper identifies and characterizes rare pathogenic variants in breast cancer genes using gnomAD and 1000 Genomes data, showing high-risk genes have more pathogenic variants and better predictive scores.
medRxiv · Aug 30, 2025 · PreprintGenetic & Genomic Medicine