Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney dis...

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Main Authors: Kirby, Andrew (Author), Gnirke, Andreas (Author), Jaffe, David B. (Author), Baresova, Veronika (Author), Pochet, Nathalie (Author), Blumenstiel, Brendan (Author), Ye, Chun (Author), Aird, Daniel (Author), Stevens, Christine (Author), Robinson, James T. (Author), Cabili, Moran N. (Author), Gat-Viks, Irit (Author), Kelliher, Edward (Author), Daza, Riza (Author), DeFelice, Matthew (Author), Hulkova, Helena (Author), Sovova, Jana (Author), Vylet'al, Petr (Author), Antignac, Corinne (Author), Guttman, Mitchell (Author), Handsaker, Robert E. (Author), Perrin, Danielle (Author), Steelman, Scott (Author), Sigurdsson, Snaevar (Author), Scheinman, Steven J. (Author), Sougnez, Carrie (Author), Cibulskis, Kristian (Author), Parkin, Melissa (Author), Green, Todd (Author), Rossin, Elizabeth (Author), Zody, Michael C. (Author), Xavier, Ramnik J. (Author), Pollak, Martin R. (Author), Alper, Seth L. (Author), Lindblad-Toh, Kerstin (Author), Gabriel, Stacey B. (Author), Hart, P. Suzanne (Author), Regev, Aviv (Contributor), Nusbaum, Chad (Author), Kmoch, Stanislav (Author), Bleyer, Anthony J. (Author), Daly, Mark J. (Author), Lander, Eric Steven (Author)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor), Lander, Eric S. (Contributor)
Format: Article
Language:English
Published: Nature Publishing Group, 2013-09-13T14:10:11Z.
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