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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 |
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Titel: |
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV |
Auteur: |
Au-Yeung, Cherie C.Y. Cheung, Yuen-Ting Cheng, Joshua Y.T. Ip, Ken W.H. Lee, Sau-Dan Yang, Victor Y.T. Lau, Amy Y.T. Lee, Chit K.C. Chong, Peter K.H. Lau, King Wai van Lunenburg, Jurgen T.J. Zheng, Damon F.D. Ho, Brian H.M. Tik, Crystal Ho, Kingsley K.K. Rajaby, Ramesh Au, Chun-Hang Yu, Mullin H.C. Sung, Wing-Kin |
Verschenen in: |
Computers in biology and medicine |
Paginering: |
Jaargang 185 () nr. C pagina's p. |
Jaar: |
2025 |
Inhoud: |
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Uitgever: |
The Authors |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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