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  • Showing 1-4 of 4 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
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.Costello, M., Pugh TJ, Fennell TJ, Stewart C., Lichtenstein L., Meldrim JC, Fostel JL, Friedrich DC, Perrin D., Dionne D., Kim S., Gabriel SB, Lander E. S., Fisher S., and Getz G. Nucleic acids research, 2013/01/08, (2013) Read More / View Supplemental Materials
Abstract
2010
A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454.Lennon, NJ, Lintner RE, Anderson S., Alvarez P., Barry A., Brockman W., Daza R., Erlich RL, Giannoukos G., Green L., Hollinger A., Hoover CA, Jaffe DB, Juhn F., McCarthy D., Perrin D., Ponchner K., Powers TL, Rizzolo K., Robbins D., et al. Genome biology, 2010/02/05, Volume 11, Issue 2, p.R15, (2010) Read More / View Supplemental Materials
Abstract
2005
Genome sequence, comparative analysis and haplotype structure of the domestic dog.Lindblad-Toh, K., Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M., Clamp M., Chang JL, Kulbokas EJ 3rd, Zody MC, Mauceli E., Xie X., Breen M., Wayne RK, Ostrander EA, Ponting CP, Galibert F., Smith DR, de Jong PJ, Kirkness E., et al. Nature, 2005/12/08, Volume 438, Issue 7069, p.803-19, (2005) Read More / View Supplemental Materials
Abstract
  • Showing 1-4 of 4 Results