Genetic Transformer: An Innovative Large Language Model Driven Approach for Rapid and Accurate Identification of Causative Variants in Rare Genetic Diseases
Litian Liang, Yulan Chen, Taifu Wang, Dan Li Jiang, Jishuo Jin, Yanmeng Pang, Na Qin, Qiang Liu, Xiaosen Jiang, Wentao Dai, Meifang Tang, Yutao Du, Dirong Peng, Xin Jin, Lijian Zhao
This paper introduces Genetic Transformer (GeneT), an LLM-driven method that significantly reduces candidate variant numbers and improves recall in rare disease diagnosis.
medRxiv · Jul 18, 2024 · PreprintGenetic & Genomic Medicine