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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 11973naa a2202905 4500 | |
| 001 | oai:DiVA.org:kth-149231 | |
| 003 | SwePub | |
| 008 | 140818s2014 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:129420736 | |
| 009 | oai:DiVA.org:su-106769 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-1492312 URI |
| 024 | 7 | a https://doi.org/10.1186/gb-2014-15-3-r532 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1294207362 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1067692 URI |
| 040 | a (SwePub)kthd (SwePub)kid (SwePub)su | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Brownstein, Catherine A.u Karolinska Institutet4 aut |
| 245 | 1 0 | a An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge |
| 264 | 1 | b Springer Science and Business Media LLC,c 2014 |
| 338 | a print2 rdacarrier | |
| 500 | a QC 20140819 | |
| 500 | a AuthorCount:198; | |
| 520 | a Background: 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. Results: 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. Conclusions: 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. | |
| 650 | 7 | a NATURVETENSKAPx Biologi0 (SwePub)1062 hsv//swe |
| 650 | 7 | a NATURAL SCIENCESx Biological Sciences0 (SwePub)1062 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinsk bioteknologi0 (SwePub)3042 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Medical Biotechnology0 (SwePub)3042 hsv//eng |
| 653 | a Burrows-Wheeler Transform | |
| 653 | a De-Novo Mutations | |
| 653 | a Whole-Genome | |
| 653 | a Genetic-Variation | |
| 653 | a Centronuclear Myopathy | |
| 653 | a Read Alignment | |
| 653 | a Titin Gene | |
| 653 | a Exome | |
| 653 | a Disease | |
| 653 | a Variants | |
| 700 | 1 | a Beggs, Alan H.4 aut |
| 700 | 1 | a Homer, Nils4 aut |
| 700 | 1 | a Merriman, Barry4 aut |
| 700 | 1 | a Yu, Timothy W.4 aut |
| 700 | 1 | a Flannery, Katherine C.4 aut |
| 700 | 1 | a DeChene, Elizabeth T.4 aut |
| 700 | 1 | a Towne, Meghan C.4 aut |
| 700 | 1 | a Savage, Sarah K.4 aut |
| 700 | 1 | a Price, Emily N.4 aut |
| 700 | 1 | a Holm, Ingrid A.4 aut |
| 700 | 1 | a Luquette, Lovelace J.4 aut |
| 700 | 1 | a Lyon, Elaine4 aut |
| 700 | 1 | a Majzoub, Joseph4 aut |
| 700 | 1 | a Neupert, Peter4 aut |
| 700 | 1 | a McCallie, David, Jr.4 aut |
| 700 | 1 | a Szolovits, Peter4 aut |
| 700 | 1 | a Willard, Huntington F.4 aut |
| 700 | 1 | a Mendelsohn, Nancy J.4 aut |
| 700 | 1 | a Temme, Renee4 aut |
| 700 | 1 | a Finkel, Richard S.4 aut |
| 700 | 1 | a Yum, Sabrina W.4 aut |
| 700 | 1 | a Medne, Livija4 aut |
| 700 | 1 | a Sunyaev, Shamil R.4 aut |
| 700 | 1 | a Adzhubey, Ivan4 aut |
| 700 | 1 | a Cassa, Christopher A.4 aut |
| 700 | 1 | a de Bakker, Paul I. W.4 aut |
| 700 | 1 | a Duzkale, Hatice4 aut |
| 700 | 1 | a Dworzynski, Piotr4 aut |
| 700 | 1 | a Fairbrother, William4 aut |
| 700 | 1 | a Francioli, Laurent4 aut |
| 700 | 1 | a Funke, Birgit H.4 aut |
| 700 | 1 | a Giovanni, Monica A.4 aut |
| 700 | 1 | a Handsaker, Robert E.4 aut |
| 700 | 1 | a Lage, Kasper4 aut |
| 700 | 1 | a Lebo, Matthew S.4 aut |
| 700 | 1 | a Lek, Monkol4 aut |
| 700 | 1 | a Leshchiner, Ignaty4 aut |
| 700 | 1 | a MacArthur, Daniel G.4 aut |
| 700 | 1 | a McLaughlin, Heather M.u Karolinska Institutet4 aut |
| 700 | 1 | a Murray, Michael F.4 aut |
| 700 | 1 | a Pers, Tune H.4 aut |
| 700 | 1 | a Polak, Paz P.4 aut |
| 700 | 1 | a Raychaudhuri, Soumya4 aut |
| 700 | 1 | a Rehm, Heidi L.4 aut |
| 700 | 1 | a Soemedi, Rachel4 aut |
| 700 | 1 | a Stitziel, Nathan O.4 aut |
| 700 | 1 | a Vestecka, Sara4 aut |
| 700 | 1 | a Supper, Jochen4 aut |
| 700 | 1 | a Gugenmus, Claudia4 aut |
| 700 | 1 | a Klocke, Bernward4 aut |
| 700 | 1 | a Hahn, Alexander4 aut |
| 700 | 1 | a Schubach, Max4 aut |
| 700 | 1 | a Menzel, Mortiz4 aut |
| 700 | 1 | a Biskup, Saskia4 aut |
| 700 | 1 | a Freisinger, Peter4 aut |
| 700 | 1 | a Deng, Mario4 aut |
| 700 | 1 | a Braun, Martin4 aut |
| 700 | 1 | a Perner, Sven4 aut |
| 700 | 1 | a Smith, Richard J. H.4 aut |
| 700 | 1 | a Andorf, Janeen L.4 aut |
| 700 | 1 | a Huang, Jian4 aut |
| 700 | 1 | a Ryckman, Kelli4 aut |
| 700 | 1 | a Sheffield, Val C.4 aut |
| 700 | 1 | a Stone, Edwin M.4 aut |
| 700 | 1 | a Bair, Thomas4 aut |
| 700 | 1 | a Black-Ziegelbein, E. Ann4 aut |
| 700 | 1 | a Braun, Terry A.4 aut |
| 700 | 1 | a Darbro, Benjamin4 aut |
| 700 | 1 | a DeLuca, Adam P.4 aut |
| 700 | 1 | a Kolbe, Diana L.4 aut |
| 700 | 1 | a Scheetz, Todd E.4 aut |
| 700 | 1 | a Shearer, Aiden E.4 aut |
| 700 | 1 | a Sompallae, Rama4 aut |
| 700 | 1 | a Wang, Kai4 aut |
| 700 | 1 | a Bassuk, Alexander G.4 aut |
| 700 | 1 | a Edens, Erik4 aut |
| 700 | 1 | a Mathews, Katherine4 aut |
| 700 | 1 | a Moore, Steven A.4 aut |
| 700 | 1 | a Shchelochkov, Oleg A.4 aut |
| 700 | 1 | a Trapane, Pamela4 aut |
| 700 | 1 | a Bossler, Aaron4 aut |
| 700 | 1 | a Campbell, Colleen A.4 aut |
| 700 | 1 | a Heusel, Jonathan W.4 aut |
| 700 | 1 | a Kwitek, Anne4 aut |
| 700 | 1 | a Maga, Tara4 aut |
| 700 | 1 | a Panzer, Karin4 aut |
| 700 | 1 | a Wassink, Thomas4 aut |
| 700 | 1 | a Van Daele, Douglas4 aut |
| 700 | 1 | a Azaiez, Hela4 aut |
| 700 | 1 | a Booth, Kevin4 aut |
| 700 | 1 | a Meyer, Nic4 aut |
| 700 | 1 | a Segal, Michael M.4 aut |
| 700 | 1 | a Williams, Marc S.4 aut |
| 700 | 1 | a Tromp, Gerard4 aut |
| 700 | 1 | a White, Peter4 aut |
| 700 | 1 | a Corsmeier, Donald4 aut |
| 700 | 1 | a Fitzgerald-Butt, Sara4 aut |
| 700 | 1 | a Herman, Gail4 aut |
| 700 | 1 | a Lamb-Thrush, Devon4 aut |
| 700 | 1 | a McBride, Kim L.4 aut |
| 700 | 1 | a Newsom, David4 aut |
| 700 | 1 | a Pierson, Christopher R.4 aut |
| 700 | 1 | a Rakowsky, Alexander T.4 aut |
| 700 | 1 | a Maver, Ales4 aut |
| 700 | 1 | a Lovrecic, Luca4 aut |
| 700 | 1 | a Palandacic, Anja4 aut |
| 700 | 1 | a Peterlin, Borut4 aut |
| 700 | 1 | a Torkamani, Ali4 aut |
| 700 | 1 | a Wedell, Annau Karolinska Institutet4 aut |
| 700 | 1 | a Huss, Mikaelu Stockholms universitet,Institutionen för biokemi och biofysik4 aut0 (Swepub:su)mihu5153 |
| 700 | 1 | a Alexeyenko, Andreyu KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,Stockholm Bioinformatics Centre, Science for Life Laboratory, Solna, Sweden4 aut0 (Swepub:kth)u15nlvu2 |
| 700 | 1 | a Lindvall, Jessica M.4 aut |
| 700 | 1 | a Magnusson, Mans4 aut |
| 700 | 1 | a Nilsson, Danielu Karolinska Institutet4 aut |
| 700 | 1 | a Stranneheim, Henriku Karolinska Institutet4 aut |
| 700 | 1 | a Taylan, Fulyau Karolinska Institutet4 aut |
| 700 | 1 | a Gilissen, Christian4 aut |
| 700 | 1 | a Hoischen, Alexander4 aut |
| 700 | 1 | a van Bon, Bregje4 aut |
| 700 | 1 | a Yntema, Helger4 aut |
| 700 | 1 | a Nelen, Marcel4 aut |
| 700 | 1 | a Zhang, Weidong4 aut |
| 700 | 1 | a Sager, Jason4 aut |
| 700 | 1 | a Zhang, Lu4 aut |
| 700 | 1 | a Blair, Kathryn4 aut |
| 700 | 1 | a Kural, Deniz4 aut |
| 700 | 1 | a Cariaso, Michael4 aut |
| 700 | 1 | a Lennon, Greg G.4 aut |
| 700 | 1 | a Javed, Asif4 aut |
| 700 | 1 | a Agrawal, Saloni4 aut |
| 700 | 1 | a Ng, Pauline C.4 aut |
| 700 | 1 | a Sandhu, Komal S.4 aut |
| 700 | 1 | a Krishna, Shuba4 aut |
| 700 | 1 | a Veeramachaneni, Vamsi4 aut |
| 700 | 1 | a Isakov, Ofer4 aut |
| 700 | 1 | a Halperin, Eran4 aut |
| 700 | 1 | a Friedman, Eitan4 aut |
| 700 | 1 | a Shomron, Noam4 aut |
| 700 | 1 | a Glusman, Gustavo4 aut |
| 700 | 1 | a Roach, Jared C.4 aut |
| 700 | 1 | a Caballero, Juan4 aut |
| 700 | 1 | a Cox, Hannah C.4 aut |
| 700 | 1 | a Mauldin, Denise4 aut |
| 700 | 1 | a Ament, Seth A.4 aut |
| 700 | 1 | a Rowen, Lee4 aut |
| 700 | 1 | a Richards, Daniel R.4 aut |
| 700 | 1 | a San Lucas, F. Anthony4 aut |
| 700 | 1 | a Gonzalez-Garay, Manuel L.4 aut |
| 700 | 1 | a Caskey, C. Thomas4 aut |
| 700 | 1 | a Bai, Yu4 aut |
| 700 | 1 | a Huang, Ying4 aut |
| 700 | 1 | a Fang, Fang4 aut |
| 700 | 1 | a Zhang, Yan4 aut |
| 700 | 1 | a Wang, Zhengyuan4 aut |
| 700 | 1 | a Barrera, Jorge4 aut |
| 700 | 1 | a Garcia-Lobo, Juan M.4 aut |
| 700 | 1 | a Gonzalez-Lamuno, Domingo4 aut |
| 700 | 1 | a Llorca, Javier4 aut |
| 700 | 1 | a Rodriguez, Maria C.4 aut |
| 700 | 1 | a Varela, Ignacio4 aut |
| 700 | 1 | a Reese, Martin G.4 aut |
| 700 | 1 | a De la Vega, Francisco M.4 aut |
| 700 | 1 | a Kiruluta, Edward4 aut |
| 700 | 1 | a Cargill, Michele4 aut |
| 700 | 1 | a Hart, Reece K.4 aut |
| 700 | 1 | a Sorenson, Jon M.4 aut |
| 700 | 1 | a Lyon, Gholson J.4 aut |
| 700 | 1 | a Stevenson, David A.4 aut |
| 700 | 1 | a Bray, Bruce E.4 aut |
| 700 | 1 | a Moore, Barry M.4 aut |
| 700 | 1 | a Eilbeck, Karen4 aut |
| 700 | 1 | a Yandell, Mark4 aut |
| 700 | 1 | a Zhao, Hongyu4 aut |
| 700 | 1 | a Hou, Lin4 aut |
| 700 | 1 | a Chen, Xiaowei4 aut |
| 700 | 1 | a Yan, Xiting4 aut |
| 700 | 1 | a Chen, Mengjie4 aut |
| 700 | 1 | a Li, Cong4 aut |
| 700 | 1 | a Yang, Can4 aut |
| 700 | 1 | a Gunel, Murat4 aut |
| 700 | 1 | a Li, Peining4 aut |
| 700 | 1 | a Kong, Yong4 aut |
| 700 | 1 | a Alexander, Austin C.4 aut |
| 700 | 1 | a Albertyn, Zayed I.4 aut |
| 700 | 1 | a Boycott, Kym M.4 aut |
| 700 | 1 | a Bulman, Dennis E.4 aut |
| 700 | 1 | a Gordon, Paul M. K.4 aut |
| 700 | 1 | a Innes, A. Micheil4 aut |
| 700 | 1 | a Knoppers, Bartha M.4 aut |
| 700 | 1 | a Majewski, Jacek4 aut |
| 700 | 1 | a Marshall, Christian R.4 aut |
| 700 | 1 | a Parboosingh, Jillian S.4 aut |
| 700 | 1 | a Sawyer, Sarah L.4 aut |
| 700 | 1 | a Samuels, Mark E.4 aut |
| 700 | 1 | a Schwartzentruber, Jeremy4 aut |
| 700 | 1 | a Kohane, Isaac S.4 aut |
| 700 | 1 | a Margulies, David M.4 aut |
| 710 | 2 | a Karolinska Institutetb Institutionen för biokemi och biofysik4 org |
| 773 | 0 | t Genome Biologyd : Springer Science and Business Media LLCg 15:3, s. R53-q 15:3<R53-x 1465-6906x 1474-760X |
| 856 | 4 | u https://genomebiology.biomedcentral.com/track/pdf/10.1186/gb-2014-15-3-r53 |
| 856 | 4 | u https://doi.org/10.1186/gb-2014-15-3-r53y Fulltext |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-149231 |
| 856 | 4 8 | u https://doi.org/10.1186/gb-2014-15-3-r53 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-106769 |
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