A phenotype-specific framework for identifying the eye abnormalities causative nonsynonymous-variants
Hankui Liu, Xiao Dang, Li-Ping Guan, Chang-Geng Tian, Sheng-Hai Zhang, Chen Ye, Laurent C. A. M. Tellier, Fang Chen, Huanming Yang, Hao-Xiang Sun, Jihong Wu, Jianguo Zhang
This paper introduces a phenotype-specific framework to identify causative nonsynonymous variants in eye abnormalities, achieving high accuracy and precision in pathogenicity prediction.
bioRxiv · Apr 13, 2020 · PreprintBioinformatics