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  • Showing 1-7 of 7 Results
2013
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) Read More / View Supplemental Materials
Abstract
2012
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries.Fisher, S., Barry A., Abreu J., Minie B., Nolan J., Delorey TM, Young G., Fennell TJ, Allen A., Ambrogio L., Berlin AM, Blumenstiel B., Cibulskis K., Friedrich D., Johnson R., Juhn F., Reilly B., Shammas R., Stalker J., Sykes SM, et al. Genome biology, 2012/01/09, Volume 12, Issue 1, p.R1, (2012) Read More / View Supplemental Materials
Abstract
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.Wagle, N., Berger MF, Davis MJ, Blumenstiel B., DeFelice M., Pochanard P., Ducar M., Van Hummelen P., Macconaill LE, Hahn WC, Meyerson M., Gabriel SB, and Garraway LA Cancer discovery, 2012/01/01, Volume 2, Issue 1, p.82-93, (2012) Read More / View Supplemental Materials
Abstract
2010
Targeted exon sequencing by in-solution hybrid selection.Blumenstiel, B., Cibulskis K., Fisher S., DeFelice M., Barry A., Fennell T., Abreu J., Minie B., Costello M., Young G., Maquire J., Kernytsky A., Melnikov A., Rogov P., Gnirke A., and Gabriel S. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2010/07/01, Volume Chapter 18, p.Unit 18.4, (2010) Read More / View Supplemental Materials
Abstract
2007
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.Plenge, RM, Cotsapas C., Davies L., Price AL, de Bakker PI, Maller J., Pe'er I., Burtt NP, Blumenstiel B., DeFelice M., Parkin M., Barry R., Winslow W., Healy C., Graham RR, Neale BM, Izmailova E., Roubenoff R., Parker AN, Glass R., et al. Nature genetics, 2007/12/01, Volume 39, Issue 12, p.1477-82, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide detection and characterization of positive selection in human populations.Sabeti, PC, Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne EH, McCarroll SA, Gaudet R., Schaffner SF, Lander E. S., International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, et al. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.and of Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes BioMedical Rese, Saxena R., Voight BF, Lyssenko V., Burtt NP, de Bakker PI, Chen H., Roix JJ, Kathiresan S., Hirschhorn JN, Daly M. J., Hughes TE, Groop L., Altshuler D., Almgren P., Florez JC, Meyer J., Ardlie K., Bengtsson Boström K., Isomaa B., et al. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007) Read More / View Supplemental Materials
Abstract
  • Showing 1-7 of 7 Results