2026-08-29T16:26:32Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/261542025-12-18T13:00:59Zcom_20.500.12105_19586com_20.500.12105_2202col_20.500.12105_19587
Repisalud author Brownstein, Catherine A author Beggs, Alan H author Homer, Nils author Merriman, Barry author Yu, Timothy W author Flannery, Katherine C author DeChene, Elizabeth T author Towne, Meghan C author Savage, Sarah K author Price, Emily N author Holm, Ingrid A author Luquette, Lovelace J author Lyon, Elaine author Majzoub, Joseph author Neupert, Peter author McCallie, David author Szolovits, Peter author Willard, Huntington F author Mendelsohn, Nancy J author Temme, Renee author Finkel, Richard S author Yum, Sabrina W author Medne, Livija author Sunyaev, Shamil R author Adzhubey, Ivan author Cassa, Christopher A author de Bakker, Paul I W author Duzkale, Hatice author Dworzyński, Piotr author Fairbrother, William author Francioli, Laurent author Funke, Birgit H author Giovanni, Monica A author Handsaker, Robert E author Lage, Kasper author Lebo, Matthew S author Lek, Monkol author Leshchiner, Ignaty author MacArthur, Daniel G author McLaughlin, Heather M author Murray, Michael F author Pers, Tune H author Polak, Paz P author Raychaudhuri, Soumya author Rehm, Heidi L author Soemedi, Rachel author Stitziel, Nathan O author Vestecka, Sara author Supper, Jochen author Gugenmus, Claudia author Klocke, Bernward author Hahn, Alexander author Schubach, Max author Menzel, Mortiz author Biskup, Saskia author Freisinger, Peter author Deng, Mario author Braun, Martin author Perner, Sven author Smith, Richard J H author Andorf, Janeen L author Huang, Jian author Ryckman, Kelli author Sheffield, Val C author Stone, Edwin M author Bair, Thomas author Black-Ziegelbein, E Ann author Braun, Terry A author Darbro, Benjamin author DeLuca, Adam P author Kolbe, Diana L author Scheetz, Todd E author Shearer, Aiden E author Sompallae, Rama author Wang, Kai author Bassuk, Alexander G author Edens, Erik author Mathews, Katherine author Moore, Steven A author Shchelochkov, Oleg A author Trapane, Pamela author Bossler, Aaron author Campbell, Colleen A author Heusel, Jonathan W author Kwitek, Anne author Maga, Tara author Panzer, Karin author Wassink, Thomas author Van Daele, Douglas author Azaiez, Hela author Booth, Kevin author Meyer, Nic author Segal, Michael M author Williams, Marc S author Tromp, Gerard author White, Peter author Corsmeier, Donald author Fitzgerald-Butt, Sara author Herman, Gail author Lamb-Thrush, Devon author McBride, Kim L author Newsom, David author Pierson, Christopher R author Rakowsky, Alexander T author Maver, Aleš author Lovrečić, Luca author Palandačić, Anja author Peterlin, Borut author Torkamani, Ali author Wedell, Anna author Huss, Mikael author Alexeyenko, Andrey author Lindvall, Jessica M author Magnusson, Måns author Nilsson, Daniel author Stranneheim, Henrik author Taylan, Fulya author Gilissen, Christian author Hoischen, Alexander author van Bon, Bregje author Yntema, Helger author Nelen, Marcel author Zhang, Weidong author Sager, Jason author Zhang, Lu author Blair, Kathryn author Kural, Deniz author Cariaso, Michael author Lennon, Greg G author Javed, Asif author Agrawal, Saloni author Ng, Pauline C author Sandhu, Komal S author Krishna, Shuba author Veeramachaneni, Vamsi author Isakov, Ofer author Halperin, Eran author Friedman, Eitan author Shomron, Noam author Glusman, Gustavo author Roach, Jared C author Caballero, Juan author Cox, Hannah C author Mauldin, Denise author Ament, Seth A author Rowen, Lee author Richards, Daniel R author San Lucas, F Anthony author Gonzalez-Garay, Manuel L author Caskey, C Thomas author Bai, Yu author Huang, Ying author Fang, Fang author Zhang, Yan author Wang, Zhengyuan author Barrera, Jorge author Garcia-Lobo, Juan M author González-Lamuño, Domingo author Llorca, Javier author Rodriguez, Maria C author Varela, Ignacio author Reese, Martin G author De La Vega, Francisco M author Kiruluta, Edward author Cargill, Michele author Hart, Reece K author Sorenson, Jon M author Lyon, Gholson J author Stevenson, David A author Bray, Bruce E author Moore, Barry M author Eilbeck, Karen author Yandell, Mark author Zhao, Hongyu author Hou, Lin author Chen, Xiaowei author Yan, Xiting author Chen, Mengjie author Li, Cong author Yang, Can author Gunel, Murat author Li, Peining author Kong, Yong author Alexander, Austin C author Albertyn, Zayed I author Boycott, Kym M author Bulman, Dennis E author Gordon, Paul M K author Innes, A Micheil author Knoppers, Bartha M author Majewski, Jacek author Marshall, Christian R author Parboosingh, Jillian S author Sawyer, Sarah L author Samuels, Mark E author Schwartzentruber, Jeremy author Kohane, Isaac S author Margulies, David M 2025-01-27T14:57:51Z 2025-01-27T14:57:51Z 2014-03-25 Genome Biol. 2014 Mar 25;15(3):R53. Genome Biology 24667040 https://hdl.handle.net/20.500.12105/26154 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. eng An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. review article 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 URL https://repisalud.isciii.es/bitstreams/76215b44-6baa-41fc-b56a-cf8c8582766c/download File MD5 e6e462a653d2283670f2d9245a3e177a 832346 application/pdf An international effort towards_Genome Biol_2014.pdf