Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
利用大型语言模型和贝叶斯推断,结合基因型和表型数据进行群体规模的变异分类
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-025-02743-z
Manders, Toby R; Tan, Christopher A; Kobayashi, Yuya; Wahl, Alexander; Araya, Carlos; Colavin, Alexandre; Facio, Flavia M; Metz, Hillery; Reuter, Jason; Frésard, Laure; Padigepati, Samskruthi R; Stafford, David A; Nussbaum, Robert L; Nykamp, Keith