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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA,
Beggs AH,
Homer N,
Merriman B,
Yu TW,
Flannery KC,
Dechene ET,
Towne MC,
Savage SK,
Price EN,
Holm IA,
Luquette LJ,
Lyon E,
Majzoub J,
Neupert P,
McCallie D,
Szolovits P,
Willard HF,
Mendelsohn NJ,
Temme R,
Finkel RS,
Yum SW,
Medne L,
Sunyaev SR,
Adzhubey I,
Cassa CA,
de Bakker PI,
Duzkale H,
Dworzy Ski P,
Fairbrother W,
Francioli L,
Funke BH,
Giovanni MA,
Handsaker RE,
Lage K,
Lebo MS,
Lek M,
Leshchiner I,
Macarthur DG,
McLaughlin HM,
Murray MF,
Pers TH,
Polak PP,
Raychaudhuri S,
Rehm HL,
Soemedi R,
Stitziel NO,
Vestecka S,
Supper J,
Gugenmus C,
Klocke B,
Hahn A,
Schubach M,
Menzel M,
Biskup S,
Freisinger P,
Deng M,
Braun M,
Perner S,
Smith RJ,
Andorf JL,
Huang J,
Ryckman K,
Sheffield VC,
Stone EM,
Bair T,
Black-Ziegelbein EA,
Braun TA,
Darbro B,
Deluca AP,
Kolbe DL,
Scheetz TE,
Shearer AE,
Sompallae R,
Wang K,
Bassuk AG,
Edens E,
Mathews K,
Moore SA,
Shchelochkov OA,
Trapane P,
Bossler A,
Campbell CA,
Heusel JW,
Kwitek A,
Maga T,
Panzer K,
Wassink T,
Van Daele D,
Azaiez H,
Booth K,
Meyer N,
Segal MM,
Williams MS,
Tromp G,
White P,
Corsmeier D,
Fitzgerald-Butt S,
Herman G,
Lamb-Thrush D,
McBride KL,
Newsom D,
Pierson CR,
Rakowsky AT,
Maver A,
Lovre IL,
Palanda IA,
Peterlin B,
Torkamani A,
Wedell A,
Huss M,
Alexeyenko A,
Lindvall JM,
Magnusson M,
Nilsson D,
Stranneheim H,
Taylan F,
Gilissen C,
Hoischen A,
van Bon B,
Yntema H,
Nelen M,
Zhang W,
Sager J,
Zhang L,
Blair K,
Kural D,
Cariaso M,
Lennon GG,
Javed A,
Agrawal S,
Ng PC,
Sandhu KS,
Krishna S,
Veeramachaneni V,
Isakov O,
Halperin E,
Friedman E,
Shomron N,
Glusman G,
Roach JC,
Caballero J,
Cox HC,
Mauldin D,
Ament SA,
Rowen L,
Richards DR,
Lucas FA,
Gonzalez-Garay ML,
Caskey CT,
Bai Y,
Huang Y,
Fang F,
Zhang Y,
Wang Z,
Barrera J,
Garcia-Lobo JM,
Gonzalez-Lamuno D,
Llorca J,
Rodriguez MC,
Varela I,
Reese MG,
De La Vega FM,
Kiruluta E,
Cargill M,
Hart RK,
Sorenson JM,
Lyon GJ,
Stevenson DA,
Bray BE,
Moore BM,
Eilbeck K,
Yandell M,
Zhao H,
Hou L,
Chen X,
Yan X,
Chen M,
Li C,
Yang C,
Gunel M,
Li P,
Kong Y,
Alexander AC,
Albertyn ZI,
Boycott KM,
Bulman DE,
Gordon PM,
Innes AM,
Knoppers BM,
Majewski J,
Marshall CR,
Parboosingh JS,
Sawyer SL,
Samuels ME,
Schwartzentruber J,
Kohane IS,
Margulies DM

Genome Biology
  15 (3): R53; Mar 25 2014   NLM
[Abstract]
[DOI] [Full Text]

A second generation human haplotype map of over 3.1 million SNPs
Frazer KA,
Ballinger DG,
Cox DR,
Hinds DA,
Stuve LL,
Gibbs RA,
Belmont JW,
Boudreau A,
Hardenbol P,
Leal SM,
Pasternak S,
Wheeler DA,
Willis TD,
Yu FL,
Yang HM,
Zeng CQ,
Gao Y,
Hu HR,
Hu WT,
Li CH,
Lin W,
Liu SQ,
Pan H,
Tang XL,
Wang J,
Wang W,
Yu J,
Zhang B,
Zhang QR,
Zhao HB,
Zhao H,
Zhou J,
Gabriel SB,
Barry R,
Blumenstiel B,
Camargo A,
Defelice M,
Faggart M,
Goyette M,
Gupta S,
Moore J,
Nguyen H,
Onofrio RC,
Parkin M,
Roy J,
Stahl E,
Winchester E,
Ziaugra L,
Altshuler D,
Shen Y,
Yao ZJ,
Huang W,
Chu X,
He YG,
Jin L,
Liu YF,
Shen YY,
Sun WW,
Wang HF,
Wang Y,
Xiong XY,
Xu L,
Waye MM,
Tsui SK,
Wong JT,
Galver LM,
Fan JB,
Gunderson K,
Murray SS,
Oliphant AR,
Chee MS,
Montpetit A,
Chagnon F,
Ferretti V,
Leboeuf M,
Olivier JF,
Phillips MS,
Roumy S,
Sallee C,
Verner A,
Hudson TJ,
Kwok PY,
Cai DM,
Koboldt DC,
Miller RD,
Pawlikowska L,
Taillon-Miller P,
Xiao M,
Tsui LC,
Mak W,
Song YQ,
Tam PK,
Nakamura Y,
Kawaguchi T,
Kitamoto T,
Morizono T,
Nagashima A,
Ohnishi Y,
Sekine A,
Tanaka T,
Tsunoda T,
Deloukas P,
Bird CP,
Delgado M,
Dermitzakis ET,
Gwilliam R,
Hunt S,
Morrison J,
Powell D,
Stranger BE,
Whittaker P,
Bentley DR,
Daly MJ,
de Bakker PI,
Barrett J,
Chretien YR,
Maller J,
McCarroll S,
Patterson N,
Peer I,
Price A,
Purcell S,
Richter DJ,
Sabeti P,
Saxena R,
Schaffner SF,
Sham PC,
Varilly P,
Stein LD,
Krishnan L,
Smith AV,
Tello-Ruiz MK,
Thorisson GA,
Chakravarti A,
Chen PE,
Cutler DJ,
Kashuk CS,
Lin S,
Abecasis GR,
Guan WH,
Li Y,
Munro HM,
Qin ZH,
Thomas DJ,
McVean G,
Auton A,
Bottolo L,
Cardin N,
Eyheramendy S,
Freeman C,
Marchini J,
Myers S,
Spencer C,
Stephens M,
Donnelly P,
Cardon LR,
Clarke G,
Evans DM,
Morris AP,
Weir BS,
Johnson TA,
Mullikin JC

Nature
  449 (7164): 851-U3; Oct 2007  
[Abstract]
[DOI] [Full Text] [PDF]

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Birney E,
Stamatoyannopoulos JA,
Dutta A,
Guigó R,
Gingeras TR,
Margulies EH,
Weng Z,
Snyder M,
Dermitzakis ET,
Thurman RE,
Kuehn MS,
Taylor CM,
Neph S,
Koch CM,
Asthana S,
Malhotra A,
Adzhubei I,
Greenbaum JA,
Andrews RM,
Flicek P,
Boyle PJ,
Cao H,
Carter NP,
Clelland GK,
Davis S,
Day N,
Dhami P,
Dillon SC,
Dorschner MO,
Fiegler H,
Giresi PG,
Goldy J,
Hawrylycz M,
Haydock A,
Humbert R,
James KD,
Johnson BE,
Johnson EM,
Frum TT,
Rosenzweig ER,
Karnani N,
Lee K,
Lefebvre GC,
Navas PA,
Neri F,
Parker SC,
Sabo PJ,
Sandstrom R,
Shafer A,
Vetrie D,
Weaver M,
Wilcox S,
Yu M,
Collins FS,
Dekker J,
Lieb JD,
Tullius TD,
Crawford GE,
Sunyaev S,
Noble WS,
Dunham I,
Denoeud F,
Reymond A,
Kapranov P,
Rozowsky J,
Zheng D,
Castelo R,
Frankish A,
Harrow J,
Ghosh S,
Sandelin A,
Hofacker IL,
Baertsch R,
Keefe D,
Dike S,
Cheng J,
Hirsch HA,
Sekinger EA,
Lagarde J,
Abril JF,
Shahab A,
Flamm C,
Fried C,
Hackermüller J,
Hertel J,
Lindemeyer M,
Missal K,
Tanzer A,
Washietl S,
Korbel J,
Emanuelsson O,
Pedersen JS,
Holroyd N,
Taylor R,
Swarbreck D,
Matthews N,
Dickson MC,
Thomas DJ,
Weirauch MT,
Gilbert J,
Drenkow J,
Bell I,
Zhao X,
Srinivasan KG,
Sung WK,
Ooi HS,
Chiu KP,
Foissac S,
Alioto T,
Brent M,
Pachter L,
Tress ML,
Valencia A,
Choo SW,
Choo CY,
Ucla C,
Manzano C,
Wyss C,
Cheung E,
Clark TG,
Brown JB,
Ganesh M,
Patel S,
Tammana H,
Chrast J,
Henrichsen CN,
Kai C,
Kawai J,
Nagalakshmi U,
Wu J,
Lian Z,
Lian J,
Newburger P,
Zhang X,
Bickel P,
Mattick JS,
Carninci P,
Hayashizaki Y,
Weissman S,
Hubbard T,
Myers RM,
Rogers J,
Stadler PF,
Lowe TM,
Wei CL,
Ruan Y,
Struhl K,
Gerstein M,
Antonarakis SE,
Fu Y,
Green ED,
Karaöz U,
Siepel A,
Taylor J,
Liefer LA,
Wetterstrand KA,
Good PJ,
Feingold EA,
Guyer MS,
Cooper GM,
Asimenos G,
Dewey CN,
Hou M,
Nikolaev S,
Montoya-Burgos JI,
Löytynoja A,
Whelan S,
Pardi F,
Massingham T,
Huang H,
Zhang NR,
Holmes I,
Mullikin JC,
Ureta-Vidal A,
Paten B,
Seringhaus M,
Church D,
Rosenbloom K,
Kent WJ,
Stone EA,
Batzoglou S,
Goldman N,
Hardison RC,
Haussler D,
Miller W,
Sidow A,
Trinklein ND,
Zhang ZD,
Barrera L,
Stuart R,
King DC,
Ameur A,
Enroth S,
Bieda MC,
Kim J,
Bhinge AA,
Jiang N,
Liu J,
Yao F,
Vega VB,
Lee CW,
Ng P,
Yang A,
Moqtaderi Z,
Zhu Z,
Xu X,
Squazzo S,
Oberley MJ,
Inman D,
Singer MA,
Richmond TA,
Munn KJ,
Rada-Iglesias A,
Wallerman O,
Komorowski J,
Fowler JC,
Couttet P,
Bruce AW,
Dovey OM,
Ellis PD,
Langford CF,
Nix DA,
Euskirchen G,
Hartman S,
Urban AE,
Kraus P,
Van Calcar S,
Heintzman N,
Hoon Kim T,
Wang K,
Qu C,
Hon G,
Luna R,
Glass CK,
Rosenfeld MG,
Aldred SF,
Cooper SJ,
Halees A,
Lin JM,
Shulha HP,
Xu M,
Haidar JN,
Yu Y,
Iyer VR,
Green RD,
Wadelius C,
Farnham PJ,
Ren B,
Harte RA,
Hinrichs AS,
Trumbower H,
Clawson H,
Hillman-Jackson J,
Zweig AS,
Smith K,
Thakkapallayil A,
Barber G,
Kuhn RM,
Karolchik D,
Armengol L,
Bird CP,
De Bakker PI,
Kern AD,
Lopez-Bigas N,
Martin JD,
Stranger BE,
Woodroffe A,
Davydov E,
Dimas A,
Eyras E,
Hallgrímsdóttir IB,
Huppert J,
Zody MC,
Abecasis GR,
Estivill X,
Bouffard GG,
Guan X,
Hansen NF,
Idol JR,
Maduro VV,
Maskeri B,
McDowell JC,
Park M,
Thomas PJ,
Young AC,
Blakesley RW,
Muzny DM,
Sodergren E,
Wheeler DA,
Worley KC,
Jiang H,
Weinstock GM,
Gibbs RA,
Graves T,
Fulton R,
Mardis ER,
Wilson RK,
Clamp M,
Cuff J,
Gnerre S,
Jaffe DB,
Chang JL,
Lindblad-Toh K,
Lander ES,
Koriabine M,
Nefedov M,
Osoegawa K,
Yoshinaga Y,
Zhu B,
De Jong PJ

Nature
  447 (7146): 799-816; 2007  
[Abstract]
[DOI] [Full Text]


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