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

Volltext

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding von McKernan, Kevin Judd, Peckham, Heather E, Costa, Gina L, McLaughlin, Stephen F, Fu, Yutao, Tsung, Eric F, Clouser, Christopher R, Duncan, Cisyla, Ichikawa, Jeffrey K, Lee, Clarence C, Zhang, Zheng, Ranade, Swati S, Dimalanta, Eileen T, Hyland, Fiona C, Sokolsky, Tanya D, Zhang, Lei, Sheridan, Andrew, Fu, Haoning, Hendrickson, Cynthia L, Li, Bin, Kotler, Lev, Stuart, Jeremy R, Malek, Joel A, Manning, Jonathan M, Antipova, Alena A, Perez, Damon S, Moore, Michael P, Hayashibara, Kathleen C, Lyons, Michael R, Beaudoin, Robert E, Coleman, Brittany E, Laptewicz, Michael W, Sannicandro, Adam E, Rhodes, Michael D, Gottimukkala, Rajesh K, Yang, Shan, Bafna, Vineet, Bashir, Ali, MacBride, Andrew, Alkan, Can, Kidd, Jeffrey M, Eichler, Evan E, Reese, Martin G, De La Vega, Francisco M, Blanchard, Alan P

Volltext