BioMart--biological queries made easy von Smedley, Damian, Haider, Syed, Ballester, Benoit, Holland, Richard, London, Darin, Thorisson, Gudmundur, Kasprzyk, Arek

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Incremental data integration for tracking genotype-disease associations von Konopka, Tomasz, Smedley, Damian

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels von Martin, Antonio Rueda, Williams, Eleanor, Foulger, Rebecca E., Leigh, Sarah, Daugherty, Louise C., Niblock, Olivia, Leong, Ivone U. S., Smith, Katherine R., Gerasimenko, Oleg, Haraldsdottir, Eik, Thomas, Ellen, Scott, Richard H., Baple, Emma, Tucci, Arianna, Brittain, Helen, de Burca, Anna, Ibañez, Kristina, Kasperaviciute, Dalia, Smedley, Damian, Caulfield, Mark, Rendon, Augusto, McDonagh, Ellen M.

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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS von Turnbull, Clare, Scott, Richard H, Thomas, Ellen, Jones, Louise, Murugaesu, Nirupa, Pretty, Freya Boardman, Halai, Dina, Baple, Emma, Craig, Clare, Hamblin, Angela, Henderson, Shirley, Patch, Christine, O’Neill, Amanda, Devereaux, Andrew, Smith, Katherine, Martin, Antonio Rueda, Sosinsky, Alona, McDonagh, Ellen M, Sultana, Razvan, Mueller, Michael, Smedley, Damian, Toms, Adam, Dinh, Lisa, Fowler, Tom, Bale, Mark, Hubbard, Tim, Rendon, Augusto, Hill, Sue, Caulfield, Mark J

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The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species von Mungall, Christopher J, McMurry, Julie A, Köhler, Sebastian, Balhoff, James P, Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, J P, Jacobsen, Julius O B, Keith, Dan, Laraway, Bryan, Lewis, Suzanna E, NguyenXuan, Jeremy, Shefchek, Kent, Vasilevsky, Nicole, Yuan, Zhou, Washington, Nicole, Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N, Haendel, Melissa A

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Diffusion enables integration of heterogeneous data and user-driven learning in a desktop knowledge-base von Konopka, Tomasz, Ng, Sandra, Smedley, Damian

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Improved exome prioritization of disease genes through cross-species phenotype comparison von Robinson, Peter N, Köhler, Sebastian, Oellrich, Anika, Wang, Kai, Mungall, Christopher J, Lewis, Suzanna E, Washington, Nicole, Bauer, Sebastian, Seelow, Dominik, Krawitz, Peter, Gilissen, Christian, Haendel, Melissa, Smedley, Damian

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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease von Smedley, Damian, Schubach, Max, Jacobsen, Julius O.B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, Robinson, Peter N.

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High-throughput mouse phenomics for characterizing mammalian gene function von Brown, Steve D. M., Holmes, Chris C., Mallon, Ann-Marie, Meehan, Terrence F., Smedley, Damian, Wells, Sara

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Interpretable prioritization of splice variants in diagnostic next-generation sequencing von Danis, Daniel, Jacobsen, Julius O.B., Carmody, Leigh C., Gargano, Michael A., McMurry, Julie A., Hegde, Ayushi, Haendel, Melissa A., Valentini, Giorgio, Smedley, Damian, Robinson, Peter N.

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Computational identification of disease models through cross-species phenotype comparison von Cacheiro, Pilar, Pava, Diego, Parkinson, Helen, VanZanten, Maya, Wilson, Robert, Gunes, Osman, The International Mouse Phenotyping Consortium, Smedley, Damian

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Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes von Oellrich, Anika, Collier, Nigel, Smedley, Damian, Groza, Tudor

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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases von Smedley, Damian, Köhler, Sebastian, Czeschik, Johanna Christina, Amberger, Joanna, Bocchini, Carol, Hamosh, Ada, Veldboer, Julian, Zemojtel, Tomasz, Robinson, Peter N

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Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen von Liakath-Ali, Kifayathullah, Vancollie, Valerie E., Heath, Emma, Smedley, Damian P., Estabel, Jeanne, Sunter, David, DiTommaso, Tia, White, Jacqueline K., Ramirez-Solis, Ramiro, Smyth, Ian, Steel, Karen P., Watt, Fiona M.

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A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations von Jayadev, Ranjay, Morais, Mychel R P T, Ellingford, Jamie M, Srinivasan, Sandhya, Naylor, Richard W, Lawless, Craig, Li, Anna S, Ingham, Jack F, Hastie, Eric, Chi, Qiuyi, Fresquet, Maryline, Koudis, Nikki-Maria, Thomas, Huw B, O'Keefe, Raymond T, Williams, Emily, Adamson, Antony, Stuart, Helen M, Banka, Siddharth, Smedley, Damian, Sherwood, David R, Lennon, Rachel

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Knockout mice are an important tool for human monogenic heart disease studies von Cacheiro, Pilar, Spielmann, Nadine, Mashhadi, Hamed Haseli, Fuchs, Helmut, Gailus-Durner, Valerie, Smedley, Damian, de Angelis, Martin Hrabĕ

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OpenStats: A robust and scalable software package for reproducible analysis of high-throughput phenotypic data von Haselimashhadi, Hamed, Mason, Jeremy C., Mallon, Ann-Marie, Smedley, Damian, Meehan, Terrence F., Parkinson, Helen

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Ensembl variation resources von Chen, Yuan, Cunningham, Fiona, Rios, Daniel, McLaren, William M, Smith, James, Pritchard, Bethan, Spudich, Giulietta M, Brent, Simon, Kulesha, Eugene, Marin-Garcia, Pablo, Smedley, Damian, Birney, Ewan, Flicek, Paul

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EnsMart: a generic system for fast and flexible access to biological data von Kasprzyk, Arek, Keefe, Damian, Smedley, Damian, London, Darin, Spooner, William, Melsopp, Craig, Hammond, Martin, Rocca-Serra, Philippe, Cox, Tony, Birney, Ewan

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Navigating the Phenotype Frontier: The Monarch Initiative von McMurry, Julie A, Köhler, Sebastian, Washington, Nicole L, Balhoff, James P, Borromeo, Charles, Brush, Matthew, Carbon, Seth, Conlin, Tom, Dunn, Nathan, Engelstad, Mark, Foster, Erin, Gourdine, Jean-Philippe, Jacobsen, Julius O B, Keith, Daniel, Laraway, Bryan, Xuan, Jeremy Nguyen, Shefchek, Kent, Vasilevsky, Nicole A, Yuan, Zhou, Lewis, Suzanna E, Hochheiser, Harry, Groza, Tudor, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A

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