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. Comp. in Bio. and Med., 185:109560, 2025. [doi]
Abstract is missing.