Li, Qigang, Keyan Zhao, Carlos D. Bustamante, Xin Ma, and Wing H. Wong. "Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis." Genetics in Medicine 21, no. 9 (2019): 2126-2134.

https://web.stanford.edu/group/wonglab/Xrare/xrare-pub.2021.html

https://hub.docker.com/r/genomcan/xrare37-pub

https://rare.genomcan.cn/#/