An International Effort Towards Developing Standards for Best Practices in Analysis, Interpretation and Reporting of Clinical Genome Sequencing Results in the CLARITY Challenge
Catherine A Brownstein,Alan H Beggs,Nils Homer,Barry Merriman,Timothy W Yu, Katherine C Flannery,Elizabeth T DeChene,Meghan C Towne,Sarah K Savage,Emily N Price,Ingrid A Holm,Lovelace J Luquette,Elaine Lyon,Joseph Majzoub, Peter Neupert, David McCallie Jr,Peter Szolovits,Huntington F Willard,Nancy J Mendelsohn,Renee Temme,Richard S Finkel,Sabrina W Yum,Livija Medne,Shamil R Sunyaev,Ivan Adzhubey,Christopher A Cassa,Paul IW de Bakker,Hatice Duzkale,Piotr Dworzyński,William Fairbrother,Laurent Francioli,Birgit H 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 P 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 Deng,Martin Braun,Sven Perner,Richard JH Smith, Janeen L Andorf,Jian Huang,Kelli Ryckman,Val C Sheffield,Edwin M Stone,Thomas Bair,E Ann Black-Ziegelbein,Terry A Braun,Benjamin Darbro,Adam P DeLuca,Diana L Kolbe,Todd E Scheetz,Aiden E Shearer,Rama Sompallae,Kai Wang,Alexander G Bassuk,Erik Edens,Katherine Mathews,Steven A Moore,Oleg A Shchelochkov,Pamela Trapane,Aaron Bossler,Colleen A Campbell,Jonathan W Heusel,Anne Kwitek,Tara Maga,Karin Panzer,Thomas Wassink,Douglas Van Daele,Hela Azaiez,Kevin Booth, Nic Meyer,Michael M Segal,Marc S Williams,Gerard Tromp,Peter White,Donald Corsmeier,Sara Fitzgerald-Butt,Gail Herman,Devon Lamb-Thrush,Kim L McBride,David Newsom,Christopher R Pierson, Alexander T 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 van Bon,Helger Yntema,Marcel Nelen,Weidong Zhang,Jason Sager,Lu Zhang,Kathryn Blair,Deniz Kural,Michael Cariaso,Greg G 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,Hannah C Cox,Denise 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,Yan Zhang,Zhengyuan Wang,Jorge Barrera,Juan M Garcia-Lobo,Domingo González-Lamuño,Javier Llorca, Maria C Rodriguez,Ignacio Varela,Martin G Reese,Francisco M De La Vega,Edward Kiruluta,Michele Cargill,Reece K Hart,Jon M Sorenson,Gholson J Lyon,David A Stevenson,Bruce E Bray,Barry M Moore,Karen Eilbeck,Mark Yandell,Hongyu Zhao,Lin Hou,Xiaowei Chen,Xiting Yan,Mengjie Chen, Cong Li,Can Yang,Murat Gunel,Peining Li,Yong Kong, Austin C Alexander, Zayed I Albertyn,Kym M Boycott,Dennis E Bulman,Paul MK Gordon,A Micheil Innes,Bartha M Knoppers,Jacek Majewski,Christian R Marshall,Jillian S Parboosingh,Sarah L Sawyer,Mark E Samuels,Jeremy Schwartzentruber,Isaac S Kohane,David M Margulies
Genome Biology（2014）
Cited 196|Views130
Key words
Whole Genome Sequencing,Variant Calling,Whole Exome Sequencing,Nemaline Myopathy,GJB2 Mutation
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