Integrating precision medicine in the study and clinical treatment of a severely mentally ill person

Autor: Jason A. O’Rawe, Han Fang, Shawn Rynearson, Reid Robison, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Martin G. Reese, Gholson J. Lyon

Publikováno v: PeerJ, Vol 1, p e177 (2013)

Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human b

Externí odkaz: https://doaj.org/article/0d0739dfa29e41d996ae3d448bba5f7e

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Autor: Elizabeth T. DeChene, Fang Fang, Javier Llorca, Gustavo Glusman, Xiting Yan, Catherine A. Brownstein, Kim L. McBride, Jason Sager, Kai Wang, Kelli K. Ryckman, Nic Meyer, Ofer Isakov, Michael M. Segal, Peining Li, Gholson J. Lyon, Edwin M. Stone, Katherine C. Flannery, Thomas B. Bair, Ingrid A. Holm, Marc S. Williams, Barry Moore, Soumya Raychaudhuri, Shuba Krishna, Timothy W. Yu, Kasper Lage, Saloni Agrawal, Eran Halperin, Mortiz Menzel, Michael F. Murray, Adam P. DeLuca, Martin G. Reese, Mark Yandell, Mengjie Chen, Donald J. Corsmeier, Mark E. Samuels, Luca Lovrečić, Matthew S. Lebo, Ignacio Varela, Oleg A. Shchelochkov, Jacek Majewski, David L. Newsom, Francisco M. De La Vega, Sven Perner, Anne E. Kwitek, Peter White, Katherine D. Mathews, Mikael Huss, Sabrina W. Yum, Janeen L. Andorf, Zayed Albertyn, Juan M. García-Lobo, Hatice Duzkale, Saskia Biskup, Jian Huang, Komal S. Sandhu, Daniel Nilsson, Anna Wedell, Bruce E. Bray, Kevin T. Booth, Bernward Klocke, Sarah L. Sawyer, Tune H. Pers, Lu Zhang, Asif Javed, David M. Margulies, Paz Polak, Juan Caballero, Kathryn Blair, Alexander T. Rakowsky, Yong Kong, Livija Medne, Huntington F. Willard, Rama Sompallae, Cong Li, Måns Magnusson, Max Schubach, Ying Huang, Paul I.W. de Bakker, Anja Palandačić, Tara Maga, Fulya Taylan, Pamela Trapane, Emily N. Price, Lovelace J. Luquette, Hongyu Zhao, Yu Bai, Barry Merriman, Alexander Hahn, Hannah C. Cox, Erik Edens, Devon Lamb-Thrush, Terry A. Braun, Dennis E. Bulman, Pauline C. Ng, Monkol Lek, Peter Szolovits, Can Yang, Renee Temme, María Cruz Rodríguez, Karin Panzer, Sara Vestecka, Gail E. Herman, Rachel Soemedi, Edward S. Kiruluta, Isaac S. Kohane, Peter Neupert, Jorge Barrera, E. Ann Black-Ziegelbein, Nathan O. Stitziel, Jillian S. Parboosingh, Ignaty Leshchiner, Sara Fitzgerald-Butt, Jared C. Roach, Monica A. Giovanni, Vamsi Veeramachaneni, Christian Gilissen, Steven A. Moore, Michele Cargill, Deniz Kural, David A. Stevenson, Aiden Eliot Shearer, Andrey Alexeyenko, Murat Gunel, Daniel R. Richards, Richard J.H. Smith, Alan H. Beggs, Nils Homer, Jonathan W. Heusel, Val C. Sheffield, Ivan Adzhubey, Bartha Maria Knoppers, Yan Zhang, Jon M. Sorenson, Greg Lennon, William G. Fairbrother, Domingo González-Lamuño, Todd E. Scheetz, Noam Shomron, Benjamin W. Darbro, Colleen A. Campbell, Christopher A. Cassa, Christopher R. Pierson, Christian R. Marshall, F. Anthony San Lucas, Elaine Lyon, Sarah K. Savage, Jessica M. Lindvall, Borut Peterlin, Peter Freisinger, Jeremy Schwartzentruber, Gerard Tromp, Eitan Friedman, Daniel G. MacArthur, Richard S. Finkel, Piotr Dworzynski, Robert E. Handsaker, A. Micheil Innes, Jochen Supper, David McCallie, Bregje W.M. van Bon, Aaron D. Bossler, Lee Rowen, Mario Deng, Laurent C. Francioli, Michael Cariaso, Shamil R. Sunyaev, Diana L. Kolbe, Nancy J. Mendelsohn, Denise E. Mauldin, Helger G. Yntema, Alexander G. Bassuk, Joseph A. Majzoub, Marcel R. Nelen, Paul M. K. Gordon, Zhengyuan Wang, Claudia Gugenmus, Aleš Maver, Heather M. McLaughlin, Meghan C. Towne, Ali Torkamani, Hela Azaiez, Karen Eilbeck, Thomas H. Wassink, Reece K. Hart, Henrik Stranneheim, Austin C. Alexander, Douglas J. Van Daele, Seth A. Ament, Manuel L. Gonzalez-Garay, Lin Hou, Birgit Funke, Kym M. Boycott, Heidi L. Rehm, Weidong Zhang, Alexander Hoischen, Martin Braun, Xiaowei Chen, C. Thomas Caskey

Publikováno v: BioMed Central Ltd
Genome Biology, 2014, 15, 53
Genome Biology
Genome Biol. 2014 Mar 25;15(3):R53
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Brownstein, C A, Beggs, A H, Homer, N, Merriman, B, Yu, T W, Flannery, K C, DeChene, E T, Towne, M C, Savage, S K, Price, E N & Dworzynski, P 2014, ' An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge ', Genome Biology (Online Edition), vol. 15, R53 . https://doi.org/10.1186/gb-2014-15-3-r53

This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.
[Background]: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48df619e6360ada0d0f65b32c9bc1641
http://hdl.handle.net/1721.1/88017