Comparative analysis of RNA sequencing methods for degraded or low-input samples. Adiconis, X. , Borges-Rivera D. , Satija R. , Deluca DS , Busby MA , Berlin AM , Sivachenko A. , Thompson DA , Wysoker A. , Fennell T. , Gnirke A. , Pochet N. , Regev A. , and Levin JZ Nature methods, 2013/05/19, (2013)
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Abstract
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Kirby, A. , Gnirke A. , Jaffe DB , Barešová V. , Pochet N. , Blumenstiel B. , Ye C. , Aird D. , Stevens C. , Robinson JT , Cabili MN , Gat-Viks I. , Kelliher E. , Daza R. , DeFelice M. , Hůlková H. , Sovová J. , Vylet'al P. , Antignac C. , Guttman M. , et al. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013)
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Abstract