UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.

Wed, 01 Jan 2025 00:00:00 +0100

Cherie C. Y. Au-Yeung , Yuen-Ting Cheung , Joshua Y. T. Cheng, Ken W. H. Ip, Sau-Dan Lee, Victor Y. T. Yang, Amy Y. T. Lau , Chit K. C. Lee, Peter K. H. Chong, King Wai Lau, Jurgen T. J. van Lunenburg, Damon F. D. Zheng, Brian H. M. Ho, Crystal Tik, Kingsley K. K. Ho, Ramesh Rajaby , Chun-Hang Au , Mullin H. C. Yu , Wing-Kin Sung :
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV. Comput. Biol. Medicine 185: 109560 (2025)