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12 Article(s) on File
Page 1 of 1
SeqHBase: a big data toolset for family based sequencing data analysis
He M,
Person TN,
Hebbring SJ,
Heinzen E,
Ye Z,
Schrodi SJ,
McPherson EW,
Lin SM,
Peissig PL,
Brilliant MH,
ORawe J,
Robison RJ,
Lyon GJ,
Wang K

J Med Genet
  (0): Jan 13 2015   Nlm
[Abstract]
[DOI] [Full Text]

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study
McGrath LM,
Yu D,
Marshall C,
Davis LK,
Thiruvahindrapuram B,
Li B,
Cappi C,
Gerber G,
Wolf A,
Schroeder FA,
Osiecki L,
ODushlaine C,
Kirby A,
Illmann C,
Haddad S,
Gallagher P,
Fagerness JA,
Barr CL,
Bellodi L,
Benarroch F,
Bienvenu OJ,
Black DW,
Bloch MH,
Bruun RD,
Budman CL,
Camarena B,
Cath DC,
Cavallini MC,
Chouinard S,
Coric V,
Cullen B,
Delorme R,
Denys D,
Derks EM,
Dion Y,
Rosario MC,
Eapen V,
Evans P,
Falkai P,
Fernandez TV,
Garrido H,
Geller D,
Grabe HJ,
Grados MA,
Greenberg BD,
Gross-Tsur V,
Grunblatt E,
Heiman GA,
Hemmings SM,
Herrera LD,
Hounie AG,
Jankovic J,
Kennedy JL,
King RA,
Kurlan R,
Lanzagorta N,
Leboyer M,
Leckman JF,
Lennertz L,
Lochner C,
Lowe TL,
Lyon GJ,
Macciardi F,
Maier W,
McCracken JT,
McMahon W,
Murphy DL,
Naarden AL,
Neale BM,
Nurmi E,
Pakstis AJ,
Pato MT,
Pato CN,
Piacentini J,
Pittenger C,
Pollak Y,
Reus VI,
Richter MA,
Riddle M,
Robertson MM,
Rosenberg D,
Rouleau GA,
Ruhrmann S,
Sampaio AS,
Samuels J,
Sandor P,
Sheppard B,
Singer HS,
Smit JH,
Stein DJ,
Tischfield JA,
Vallada H,
Veenstra-VanderWeele J,
Walitza S,
Wang Y,
Wendland JR,
Shugart YY,
Miguel EC,
Nicolini H,
Oostra BA,
Moessner R,
Wagner M,
Ruiz-Linares A,
Heutink P,
Nestadt G,
Freimer N,
Petryshen T,
Posthuma D,
Jenike MA,
Cox NJ,
Hanna GL,
Brentani H,
Scherer SW,
Arnold PD,
Stewart SE,
Mathews CA,
Knowles JA,
Cook EH,
Pauls DL,
Wang K,
Scharf JM

Journal of the American Academy of Child and Adolescent Psychiatry
  53 (8): 910-9; Aug 2014   Nlm
[Abstract]
[DOI] [Full Text]

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]

Systematic evaluation of spliced alignment programs for RNA-seq data
Engström PG,
Steijger T,
Sipos B,
Grant GR,
Kahles A,
Rätsch G,
Goldman N,
Hubbard TJ,
Harrow J,
Guigó R,
Bertone P,
Alioto T,
Behr J,
Bohnert R,
Campagna D,
Davis CA,
Dobin A,
Gingeras TR,
Jean G,
Kosarev P,
Li S,
Liu J,
Mason CE,
Molodtsov V,
Ning Z,
Ponstingl H,
Prins JF,
Ribeca P,
Seledtsov I,
Solovyev V,
Valle G,
Vitulo N,
Wang K,
Wu TD,
Zeller G

Nature Methods
  10 (12): 1185-1191; Dec 2013  
[Abstract]
[DOI] [Full Text]

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Wang K,
Kim C,
Bradfield J,
Guo YF,
Toskala E,
Otieno FG,
Hou CP,
Thomas K,
Cardinale C,
Lyon GJ,
Golhar R,
Hakonarson H

Genome Medicine
  5 (0): Jul 2013   NLM
[Abstract]
[Full Text]

Whole-genome sequencing in an autism multiplex family
Shi L,
Zhang X,
Golhar R,
Otieno FG,
He M,
Hou C,
Kim C,
Keating B,
Lyon GJ,
Wang K,
Hakonarson H

Mol Autism
  4 (1): 8; Apr 18 2013   Nlm
[Abstract]
[DOI] [Full Text]

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
ORawe J,
Jiang T,
Sun GQ,
Wu YY,
Wang W,
Hu JC,
Bodily P,
Tian LF,
Hakonarson H,
Johnson WE,
Wei Z,
Wang K,
Lyon GJ

Genome Medicine
  5 (0): Mar 27 2013  
[Abstract]
[DOI] [Full Text]

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Elia J,
Glessner JT,
Wang K,
Takahashi N,
Shtir CJ,
Hadley D,
Sleiman PM,
Zhang H,
Kim CE,
Robison R,
Lyon GJ,
Flory JH,
Bradfield JP,
Imielinski M,
Hou C,
Frackelton EC,
Chiavacci RM,
Sakurai T,
Rabin C,
Middleton FA,
Thomas KA,
Garris M,
Mentch F,
Freitag CM,
Steinhausen HC,
Todorov AA,
Reif A,
Rothenberger A,
Franke B,
Mick EO,
Roeyers H,
Buitelaar J,
Lesch KP,
Banaschewski T,
Ebstein RP,
Mulas F,
Oades RD,
Sergeant J,
Sonuga-Barke E,
Renner TJ,
Romanos M,
Romanos J,
Warnke A,
Walitza S,
Meyer J,
Pálmason H,
Seitz C,
Loo SK,
Smalley SL,
Biederman J,
Kent L,
Asherson P,
Anney RJ,
Gaynor JW,
Shaw P,
Devoto M,
White PS,
Grant SF,
Buxbaum JD,
Rapoport JL,
Williams NM,
Nelson SF,
Faraone SV,
Hakonarson H

Nature Genetics
  44 (1): 78-84; Dec 4 2012  
[Abstract]
[DOI] [Full Text]

Erratum: Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency (American Journal of Human Genetics (2011) 89 (28-43))
Rope AF,
Wang K,
Evjenth R,
Xing J,
Johnston JJ,
Swensen JJ,
Johnson WE,
Moore B,
Huff CD,
Bird LM,
Carey JC,
Opitz JM,
Stevens CA,
Jiang T,
Schank C,
Fain HD,
Robison R,
Dalley B,
Chin S,
South ST,
Pysher TJ,
Jorde LB,
Hakonarson H,
Lillehaug JR,
Biesecker LG,
Yandell M,
Arnesen T,
Lyon GJ

Am J Hum Genet
  89 (2): 345; Aug 12 2011  
[DOI]

Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis
Thorsen K,
Sorensen KD,
Brems-Eskildsen AS,
Modin C,
Gaustadnes M,
Hein AM,
Kruhoffer M,
Laurberg S,
Borre M,
Wang K,
Brunak S,
Krainer AR,
Torring N,
Dyrskjot L,
Andersen CL,
Orntoft TF

Molecular Cellular Proteomics
  7 (7): 1214-1224; Jul 2008  
[Abstract]
[DOI] [Full Text]

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]

Fluorescent Localization of Contractile-Proteins in Tissue-Culture Cells
Wang K,
Feramisco JR,
Ash JF

Methods in Enzymology
  85 (0): 514-562; 1982  
[Full Text]


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