Pharmacogenomic testing in paediatrics: clinical implementation strategies

Autor: Charlotte I. S. Barker, Gabriella Groeneweg, Anke H. Maitland‐van der Zee, Michael J. Rieder, Daniel B. Hawcutt, Tim J. Hubbard, Jesse J. Swen, Bruce C. Carleton

Publikováno v: British Journal of Clinical Pharmacology. WILEY
British Journal of Clinical Pharmacology
Paediatrics Publications

Pharmacogenomics (PGx) relates to the study of genetic factors determining variability in drug response. Implementing PGx testing in paediatric patients can enhance drug safety, helping to improve drug efficacy or reduce the risk of toxicity. Despite

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f72784028128d9e161ae2807b1322778
http://hdl.handle.net/1887/3276859

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

Autor: Melissa K Boles, Bonney M Wilkinson, Laurens G Wilming, Bin Liu, Frank J Probst, Jennifer Harrow, Darren Grafham, Kathryn E Hentges, Lanette P Woodward, Andrea Maxwell, Karen Mitchell, Michael D Risley, Randy Johnson, Karen Hirschi, James R Lupski, Yosuke Funato, Hiroaki Miki, Pablo Marin-Garcia, Lucy Matthews, Alison J Coffey, Anne Parker, Tim J Hubbard, Jane Rogers, Allan Bradley, David J Adams, Monica J Justice

Publikováno v: PLoS Genetics, Vol 5, Iss 12, p e1000759 (2009)

An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of large-scale sequencing for m

Externí odkaz: https://doaj.org/article/1a22b98f229e441bb8fc377e6991707a

International network of cancer genome projects

Autor: Thomas J, Hudson, Warwick, Anderson, Axel, Artez, Anna D, Barker, Cindy, Bell, Rosa R, Bernabé, M K, Bhan, Fabien, Calvo, Iiro, Eerola, Daniela S, Gerhard, Alan, Guttmacher, Mark, Guyer, Fiona M, Hemsley, Jennifer L, Jennings, David, Kerr, Peter, Klatt, Patrik, Kolar, Jun, Kusada, David P, Lane, Frank, Laplace, Lu, Youyong, Gerd, Nettekoven, Brad, Ozenberger, Jane, Peterson, T S, Rao, Jacques, Remacle, Alan J, Schafer, Tatsuhiro, Shibata, Michael R, Stratton, Joseph G, Vockley, Koichi, Watanabe, Huanming, Yang, Matthew M F, Yuen, Bartha M, Knoppers, Martin, Bobrow, Anne, Cambon-Thomsen, Lynn G, Dressler, Stephanie O M, Dyke, Yann, Joly, Kazuto, Kato, Karen L, Kennedy, Pilar, Nicolás, Michael J, Parker, Emmanuelle, Rial-Sebbag, Carlos M, Romeo-Casabona, Kenna M, Shaw, Susan, Wallace, Georgia L, Wiesner, Nikolajs, Zeps, Peter, Lichter, Andrew V, Biankin, Christian, Chabannon, Lynda, Chin, Bruno, Clément, Enrique, de Alava, Françoise, Degos, Martin L, Ferguson, Peter, Geary, D Neil, Hayes, Amber L, Johns, Arek, Kasprzyk, Hidewaki, Nakagawa, Robert, Penny, Miguel A, Piris, Rajiv, Sarin, Aldo, Scarpa, Marc, van de Vijver, P Andrew, Futreal, Hiroyuki, Aburatani, Mónica, Bayés, David D L, Botwell, Peter J, Campbell, Xavier, Estivill, Sean M, Grimmond, Ivo, Gut, Martin, Hirst, Carlos, López-Otín, Partha, Majumder, Marco, Marra, John D, McPherson, Zemin, Ning, Xose S, Puente, Yijun, Ruan, Hendrik G, Stunnenberg, Harold, Swerdlow, Victor E, Velculescu, Richard K, Wilson, Hong H, Xue, Liu, Yang, Paul T, Spellman, Gary D, Bader, Paul C, Boutros, Paul, Flicek, Gad, Getz, Roderic, Guigó, Guangwu, Guo, David, Haussler, Simon, Heath, Tim J, Hubbard, Tao, Jiang, Steven M, Jones, Qibin, Li, Nuria, López-Bigas, Ruibang, Luo, Lakshmi, Muthuswamy, B F Francis, Ouellette, John V, Pearson, Victor, Quesada, Benjamin J, Raphael, Chris, Sander, Terence P, Speed, Lincoln D, Stein, Joshua M, Stuart, Jon W, Teague, Yasushi, Totoki, Tatsuhiko, Tsunoda, Alfonso, Valencia, David A, Wheeler, Honglong, Wu, Shancen, Zhao, Guangyu, Zhou, Mark, Lathrop, Gilles, Thomas, Teruhiko, Yoshida, Myles, Axton, Chris, Gunter, Linda J, Miller, Junjun, Zhang, Syed A, Haider, Jianxin, Wang, Christina K, Yung, Anthony, Cros, Anthony, Cross, Yong, Liang, Saravanamuttu, Gnaneshan, Jonathan, Guberman, Jack, Hsu, Don R C, Chalmers, Karl W, Hasel, Terry S H, Kaan, William W, Lowrance, Tohru, Masui, Laura Lyman, Rodriguez, Catherine, Vergely, David D L, Bowtell, Nicole, Cloonan, Anna, deFazio, James R, Eshleman, Dariush, Etemadmoghadam, Brooke B, Gardiner, Brooke A, Gardiner, James G, Kench, Robert L, Sutherland, Margaret A, Tempero, Nicola J, Waddell, Peter J, Wilson, Steve, Gallinger, Ming-Sound, Tsao, Patricia A, Shaw, Gloria M, Petersen, Debabrata, Mukhopadhyay, Ronald A, DePinho, Sarah, Thayer, Kamran, Shazand, Timothy, Beck, Michelle, Sam, Lee, Timms, Vanessa, Ballin, Youyong, Lu, Jiafu, Ji, Xiuqing, Zhang, Feng, Chen, Xueda, Hu, Qi, Yang, Geng, Tian, Lianhai, Zhang, Xiaofang, Xing, Xianghong, Li, Zhenggang, Zhu, Yingyan, Yu, Jun, Yu, Jörg, Tost, Paul, Brennan, Ivana, Holcatova, David, Zaridze, Alvis, Brazma, Lars, Egevard, Egor, Prokhortchouk, Rosamonde Elizabeth, Banks, Mathias, Uhlén, Juris, Viksna, Fredrik, Ponten, Konstantin, Skryabin, Ewan, Birney, Ake, Borg, Anne-Lise, Børresen-Dale, Carlos, Caldas, John A, Foekens, Sancha, Martin, Jorge S, Reis-Filho, Andrea L, Richardson, Christos, Sotiriou, Giles, Thoms, Laura, van't Veer, Daniel, Birnbaum, Hélène, Blanche, Pascal, Boucher, Sandrine, Boyault, Jocelyne D, Masson-Jacquemier, Iris, Pauporté, Xavier, Pivot, Anne, Vincent-Salomon, Eric, Tabone, Charles, Theillet, Isabelle, Treilleux, Paulette, Bioulac-Sage, Thomas, Decaens, Dominique, Franco, Marta, Gut, Didier, Samuel, Jessica, Zucman-Rossi, Roland, Eils, Benedikt, Brors, Jan O, Korbel, Andrey, Korshunov, Pablo, Landgraf, Hans, Lehrach, Stefan, Pfister, Bernhard, Radlwimmer, Guido, Reifenberger, Michael D, Taylor, Christof, von Kalle, Partha P, Majumder, Paolo, Pederzoli, Rita A, Lawlor, Massimo, Delledonne, Alberto, Bardelli, Thomas, Gress, David, Klimstra, Giuseppe, Zamboni, Yusuke, Nakamura, Satoru, Miyano, Akihiro, Fujimoto, Elias, Campo, Silvia, de Sanjosé, Emili, Montserrat, Marcos, González-Díaz, Pedro, Jares, Heinz, Himmelbauer, Heinz, Himmelbaue, Silvia, Bea, Samuel, Aparicio, Douglas F, Easton, Francis S, Collins, Carolyn C, Compton, Eric S, Lander, Wylie, Burke, Anthony R, Green, Stanley R, Hamilton, Olli P, Kallioniemi, Timothy J, Ley, Edison T, Liu, Brandon J, Wainwright

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
ResearcherID
Nature, 464(7291), 993-998. Nature Publishing Group
Nature
Nature, Nature Publishing Group, 2010, 464 (7291), pp.993-8. ⟨10.1038/nature08987⟩
Nature; Vol 464
Nature, 464, 993-998
Nature, 464, 7291, pp. 993-998
Dipòsit Digital de la UB
Universidad de Barcelona
Nature, 2010, 464 (7291), pp.993-8. ⟨10.1038/nature08987⟩

International audience; The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes that are of clinical and societal importance across the gl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7f730dcbbde4106a1821bd757c3669
http://hdl.handle.net/10230/36597