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UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.
Au-Yeung CCY, Cheung YT, Cheng JYT, Ip KWH, Lee SD, Yang VYT, Lau AYT, Lee CKC, Chong PKH, Lau KW, van Lunenburg JTJ, Zheng DFD, Ho BHM, Tik C, Ho KKK, Rajaby R, Au CH, Yu MHC, Sung WK. Au-Yeung CCY, et al. Among authors: ip kwh. Comput Biol Med. 2024 Dec 17;185:109560. doi: 10.1016/j.compbiomed.2024.109560. Online ahead of print. Comput Biol Med. 2024. PMID: 39700857 Free article.