换一批An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
作者：
Brownstein, Catherine A. [1]
;
Beggs, Alan H. [2]
;
Homer, Nils [3]
;
Merriman, Barry [4]
;
Yu, Timothy W. [5]
;
Flannery, Katherine C. [6]
;
DeChene, Elizabeth T. [7]
;
Towne, Meghan C. [8]
;
Savage, Sarah K. [9]
;
Price, Emily N. [10]
;
Holm, Ingrid A. [5]
;
Luquette, Lovelace J. [2]
;
Lyon, Elaine [7]
;
Majzoub, Joseph [11]
;
Neupert, Peter [2]
;
McCallie, David, Jr. [7]
;
Szolovits, Peter [12]
;
Willard, Huntington F. [13]
;
Mendelsohn, Nancy J. [14]
;
Temme, Renee [1]
;
Finkel, Richard S. [15]
;
Yum, Sabrina W. [16]
;
Medne, Livija [17]
;
Sunyaev, Shamil R. [18]
;
Adzhubey, Ivan [7]
;
Cassa, Christopher A. [19]
;
de Bakker, Paul I. W. [20]
;
Duzkale, Hatice [7]
;
Dworzynski, Piotr [21]
;
Fairbrother, William [8]
;
Francioli, Laurent [22]
;
Funke, Birgit H. [7]
;
Giovanni, Monica A. [20]
;
Handsaker, Robert E. [23]
;
Lage, Kasper [24]
;
Lebo, Matthew S. [25]
;
Lek, Monkol [26]
;
Leshchiner, Ignaty [7]
;
MacArthur, Daniel G. [7]
;
McLaughlin, Heather M. [20]
;
Murray, Michael F. [27]
;
Pers, Tune H. [6]
;
Polak, Paz P. [28]
;
Raychaudhuri, Soumya [2]
;
Rehm, Heidi L. [29]
;
Soemedi, Rachel [30]
;
Stitziel, Nathan O. [29]
;
Vestecka, Sara [7]
;
Supper, Jochen [7]
;
Gugenmus, Claudia [7]
;
Klocke, Bernward [31]
;
Hahn, Alexander [6]
;
Schubach, Max [32]
;
Menzel, Mortiz [33]
;
Biskup, Saskia [7]
;
Freisinger, Peter [34]
;
Deng, Mario [35]
;
Braun, Martin [36]
;
Perner, Sven [18]
;
Smith, Richard J. H. [9]
;
Andorf, Janeen L. [20]
;
Huang, Jian [37]
;
Ryckman, Kelli [38]
;
Sheffield, Val C. [26]
;
Stone, Edwin M. [6]
;
Bair, Thomas [20]
;
Black-Ziegelbein, E. Ann [37]
;
Braun, Terry A. [39]
;
Darbro, Benjamin [40]
;
DeLuca, Adam P. [7]
;
Kolbe, Diana L. [36]
;
Scheetz, Todd E. [2]
;
Shearer, Aiden E. [41]
;
Sompallae, Rama [6]
;
Wang, Kai [42]
;
Bassuk, Alexander G. [31]
;
Edens, Erik [7]
;
Mathews, Katherine [43]
;
Moore, Steven A. [44]
;
Shchelochkov, Oleg A. [45]
;
Trapane, Pamela [33]
;
Bossler, Aaron [20]
;
Campbell, Colleen A. [7]
;
Heusel, Jonathan W. [46]
;
Kwitek, Anne [20]
;
Maga, Tara [47]
;
Panzer, Karin [48]
;
Wassink, Thomas [49]
;
Van Daele, Douglas [50]
;
Azaiez, Hela [7]
;
Booth, Kevin [51]
;
Meyer, Nic [5]
;
Segal, Michael M. [10]
;
Williams, Marc S. [3]
;
Tromp, Gerard [52]
;
White, Peter [28]
;
Corsmeier, Donald [37]
;
Fitzgerald-Butt, Sara [53]
;
Herman, Gail [28]
;
Lamb-Thrush, Devon [54]
;
McBride, Kim L. [23]
;
Newsom, David [29]
;
Pierson, Christopher R. [55]
;
Rakowsky, Alexander T. [7]
;
Maver, Ales [7]
;
Lovrecic, Luca [8]
;
Palandacic, Anja [9]
;
Peterlin, Borut [2]
;
Torkamani, Ali [7]
;
Wedell, Anna [56]
;
Huss, Mikael [6]
;
Alexeyenko, Andrey [6]
;
Lindvall, Jessica M. [57]
;
Magnusson, Mans [34]
;
Nilsson, Daniel [42]
;
Stranneheim, Henrik [33]
;
Taylan, Fulya [29]
;
Gilissen, Christian [2]
;
Hoischen, Alexander [58]
;
van Bon, Bregje [20]
;
Yntema, Helger [24]
;
Nelen, Marcel [3]
;
Zhang, Weidong [23]
;
Sager, Jason [12]
;
Zhang, Lu [7]
;
Blair, Kathryn [59]
;
Kural, Deniz [7]
;
Cariaso, Michael [60]
;
Lennon, Greg G. [61]
;
Javed, Asif [62]
;
Agrawal, Saloni [2]
;
Ng, Pauline C. [36]
;
Sandhu, Komal S. [26]
;
Krishna, Shuba [63]
;
Veeramachaneni, Vamsi [9]
;
Isakov, Ofer [17]
;
Halperin, Eran [26]
;
Friedman, Eitan [36]
;
Shomron, Noam [12]
;
Glusman, Gustavo [7]
;
Roach, Jared C. [59]
;
Caballero, Juan [46]
;
Cox, Hannah C. [62]
;
Mauldin, Denise [28]
;
Ament, Seth A. [20]
;
Rowen, Lee [64]
;
Richards, Daniel R. [65]
;
San Lucas, F. Anthony [66]
;
Gonzalez-Garay, Manuel L. [10]
;
Caskey, C. Thomas [67]
;
Bai, Yu [68]
;
Huang, Ying [18]
;
Fang, Fang [46]
;
Zhang, Yan [10]
;
Wang, Zhengyuan [43]
;
Barrera, Jorge [66]
;
Garcia-Lobo, Juan M. [69]
;
Gonzalez-Lamuno, Domingo [70]
;
Llorca, Javier [7]
;
Rodriguez, Maria C. [16]
;
Varela, Ignacio [7]
;
Reese, Martin G. [71]
;
De la Vega, Francisco M. [20]
;
Kiruluta, Edward [72]
;
Cargill, Michele [73]
;
Hart, Reece K. [1]
;
Sorenson, Jon M. [29]
;
Lyon, Gholson J. [31]
;
Stevenson, David A. [6]
;
Bray, Bruce E. [2]
;
Moore, Barry M. [7]
;
Eilbeck, Karen [8]
;
Yandell, Mark [7]
;
Zhao, Hongyu [9]
;
Hou, Lin [29]
;
Chen, Xiaowei [14]
;
Yan, Xiting [74]
;
Chen, Mengjie [17]
;
Li, Cong [31]
;
Yang, Can [28]
;
Gunel, Murat [63]
;
Li, Peining [75]
;
Kong, Yong [37]
;
Alexander, Austin C. [45]
;
Albertyn, Zayed I. [20]
;
Boycott, Kym M. [74]
;
Bulman, Dennis E. [7]
;
Gordon, Paul M. K. [6]
;
Innes, A. Micheil [62]
;
Knoppers, Bartha M. [76]
;
Majewski, Jacek [76]
;
Marshall, Christian R. [77]
;
Parboosingh, Jillian S. [7]
;
Sawyer, Sarah L. [7]
;
Samuels, Mark E. [78]
;
Schwartzentruber, Jeremy [29]
;
Kohane, Isaac S. [79]
;
Margulies, David M.
作者单位：
Strand Life Sci, Bangalore, Karnataka, India
[1]
Res Connect, Div Genet & Genom, Boston, MA 02127 USA
[2]
Omicia Inc, Emeryville, CA USA
[3]
Univ Toronto, Hosp Sick Children, Ctr Appl Genom, McLaughlin Ctr, Toronto, ON M5G 1X8, Canada
[4]
Univ Hosp Bonn, Inst Pathol, Dept Prostate Canc Res, Bonn, Germany
[5]
Ohio State Univ, Dept Pediat, Nationwide Childrens Hosp, Columbus, OH 43210 USA
[6]
Univ Iowa, Carver Coll Med, Iowa Inst Human Genet, Iowa City, IA USA
[7]
Inst Biomed & Biotecnol Cantabria IBBTEC, Santander, Cantabria, Spain
[8]
Karolinska Inst, Dept Mol Med & Surg, Sci Life Lab, Stockholm, Sweden
[9]
CeGaT GmbH, Tubingen, Germany
[10]
Ingenu Syst, Redwood City, CA USA
[11]
Yale Univ, Sch Publ Hlth, Dept Biostat, New Haven, CT USA
[12]
UTHealth, Brown Fdn Inst Mol Med, Ctr Mol Imaging, Div Next Generat Sequencing, Houston, TX USA
[13]
River Rd Bio, Potomac, MD USA
[14]
Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT USA
[15]
Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA
[16]
InVitae, San Francisco, CA 94107 USA
[17]
Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA USA
[18]
Harvard Univ, Sch Med, Dept Genet, Boston, MA USA
[19]
Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Genet, Boston, MA 02115 USA
[20]
Cerner Corp, Med Informat, Kansas City, MO USA
[21]
Tech Univ Denmark, Dept Syst Biol, Ctr Biol Sequence Anal, DK-2800 Lyngby, Denmark
[22]
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT USA
[23]
NHLBI, NIH, Bethesda, MD 20892 USA
[24]
Univ Calgary, ACHRI, Calgary, AB, Canada
[25]
Univ Med Ctr Ljubljana, Dept Obstet & Gynecol, Clin Inst Med Genet, Ljubljana, Slovenia
[26]
Childrens Hosp Boston, Div Endocrinol, Boston, MA USA
[27]
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
[28]
Inst Syst Biol, Seattle, WA USA
[29]
Univ Montreal, CHU Ste Justine, Ctr Rech, Dept Med, Montreal, PQ, Canada
[30]
Harvard Univ, Brigham & Womens Hosp, Sch Med, Lab Mol Med,Partners Healthcare Ctr Personalized, Boston, MA 02115 USA
[31]
Life Technol, Carlsbad, CA USA
[32]
Seven Bridges Genom Inc, Cambridge, MA USA
[33]
Sanofi, Cambridge, MA USA
[34]
Novocraft Technol Sdn Bhd, Selangor, Malaysia
[35]
Tel Aviv Univ, IL-69978 Tel Aviv, Israel
[36]
Genomatix Software GmbH, Munich, Germany
[37]
Microsoft Corp, Microsoft Hlth Solut Grp, Seattle, WA USA
[38]
SimulConsult, Chestnut Hill, MA USA
[39]
Univ Cantabria, E-39005 Santander, Cantabria, Spain
[40]
Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Univ Texas Grad Sch Biomed Sci, Houston, TX 77030 USA
[41]
Childrens Hosp & Clin Minnesota, Dept Med Genet, Minneapolis, MN USA
[42]
Univ Utah, Sch Med, Dept Human Genet, Eccles Inst Human Genet, Salt Lake City, UT 84132 USA
[43]
Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT USA
[44]
Univ Calgary, Dept Med Genet, Calgary, AB, Canada
[45]
ASTAR, Computat & Math Biol Genome Inst Singapore, Singapore, Singapore
[46]
Harvard Univ, Massachusetts Gen Hosp, Sch Med, Pediat Surg Res Labs, Boston, MA USA
[47]
Univ Iowa, Coll Publ Hlth, Dept Epidemiol, Iowa Inst Human Genet, Iowa City, IA USA
[48]
McGill Univ, Ctr Genom & Policy, Montreal, PQ, Canada
[49]
Stanford Univ, Sch Med, Palo Alto, CA 94304 USA
[50]
Yale Univ, Keck Lab, Biostat Resource, New Haven, CT USA
[51]
Pearlgen Inc, Durham, NC USA
[52]
Scripps Res Inst, Scripps Translat Sci Inst, La Jolla, CA 92037 USA
[53]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[54]
Duke Univ, Duke Inst Genome Sci & Policy, Durham, NC USA
[55]
Univ Iowa, Coll Liberal Arts & Sci, Iowa Inst Human Genet, Iowa City, IA USA
[56]
Royal Inst Technol, Sch Biotechnol, Sci Life Lab, Stockholm, Sweden
[57]
Univ Utah, Sch Med, Salt Lake City, UT USA
[58]
Geisinger Hlth Syst, Danville, PA USA
[59]
Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
[60]
Univ Utah, Sch Med, ARUP Labs, Salt Lake City, UT USA
[61]
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
[62]
Harvard Univ, Massachusetts Gen Hosp, Sch Med, Analyt & Translat Genet Unit, Boston, MA USA
[63]
Harvard Univ, Sch Med, Boston Childrens Hosp, Div Endocrinol, Boston, MA USA
[64]
Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, S-10691 Stockholm, Sweden
[65]
Brown Univ, Ctr Computat Mol Biol, Providence, RI 02912 USA
[66]
Yale Univ, WM Keck Fdn Biotechnol Resource Lab, Dept Mol Biophys & Biochem, New Haven, CT USA
[67]
Univ Utah, Sch Med, Div Cardiol, Salt Lake City, UT USA
[68]
Claritas Genom, Boston, MA USA
[69]
Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden
[70]
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
[71]
Nemours Childrens Hosp, Div Neurol, Orlando, FL USA
[72]
Univ Cantabria, Dept Ciencias Med & Quirurg, Div Pediat, E-39005 Santander, Cantabria, Spain
[73]
McGill Univ, Montreal, PQ, Canada
[74]
Univ Iowa, Coll Publ Hlth, Dept Biostat, Iowa Inst Human Genet, Iowa City, IA USA
[75]
Regeneron Pharmaceut Inc, Tarrytown, NY USA
[76]
Stanley Inst Cognit Genom, Cold Spring Harbor Lab, New York, NY USA
[77]
MIT, Dept Elect Engn & Comp Sci, Cambridge, MA 02139 USA
[78]
Univ Iowa, Coll Engn, Iowa Inst Human Genet, Iowa City, IA USA
[79]
发布时间
2016-01-20
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Genome Biology
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