Scientific Publications

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

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Abstract

High-quality draft assemblies of mammalian genomes from massively parallel sequence data.Gnerre, S., Maccallum I., Przybylski D., Ribeiro FJ, Burton JN, Walker BJ, Sharpe T., Hall G., Shea TP, Sykes S., Berlin AM, Aird D., Costello M., Daza R., Williams L., Nicol R., Gnirke A., Nusbaum C., Lander E. S., and Jaffe DB Proceedings of the National Academy of Sciences of the United States of America, 2011/01/25, Volume 108, Issue 4, p.1513-8, (2011) Read More / View Supplemental Materials

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Abstract

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

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Abstract

Evolution of genes and genomes on the Drosophila phylogeny.Drosophila 12 Genomes, Consortium, Clark AG, Eisen MB, Smith DR, Bergman CM, Oliver B., Markow TA, Kaufman TC, Kellis M., Gelbart W., Iyer VN, Pollard DA, Sackton TB, Larracuente AM, Singh ND, Abad JP, Abt DN, Adryan B., Aguade M., Akashi H., et al. Nature, 2007/11/08, Volume 450, Issue 7167, p.203-18, (2007) Read More / View Supplemental Materials

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Abstract

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

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Abstract