Article
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
American journal of human genetics - 3 Feb 2022
Chen Zefu, Zheng Yu, Yang Yongxin, Huang Yingzhao, Zhao Sen, Zhao Hengqiang, Yu Chenxi, Dong Xiying, Zhang Yuanqiang, Wang Lianlei, Zhao Zhengye, Wang Shengru, Yang Yang, Ming Yue, Su Jianzhong, Qiu Guixing, Wu Zhihong, Zhang Terry Jianguo, Wu Nan
Abstract excerpt
In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical ES analysis still involves the interpretation of hundreds of variants, which greatly hinders the rapid identification of causative genes. Since the interpretations of ES data require comprehensive clinical analyses, taking clinical expertise into consideration can...
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