Portal de Periódicos da CAPES

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

2014; BioMed Central; Volume: 15; Issue: 3 Linguagem: Inglês

10.1186/gb-2014-15-3-r53

1474-760X

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

Genetic factors in colorectal cancer

There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.