Ensembl 2015

被引:936
作者
Cunningham, Fiona [1 ]
Amode, M. Ridwan [1 ]
Barrell, Daniel [1 ,2 ]
Beal, Kathryn [1 ]
Billis, Konstantinos [1 ]
Brent, Simon [2 ]
Carvalho-Silva, Denise [1 ]
Clapham, Peter [2 ]
Coates, Guy [2 ]
Fitzgerald, Stephen [1 ]
Gil, Laurent [1 ]
Giron, Carlos Garcia [1 ]
Gordon, Leo [1 ]
Hourlier, Thibaut [1 ]
Hunt, Sarah E. [1 ]
Janacek, Sophie H. [1 ]
Johnson, Nathan [1 ]
Juettemann, Thomas [1 ]
Kaehaeri, Andreas K. [2 ]
Keenan, Stephen [1 ]
Martin, Fergal J. [1 ]
Maurel, Thomas [1 ]
McLaren, William [1 ]
Murphy, Daniel N. [1 ,2 ]
Nag, Rishi [1 ]
Overduin, Bert [1 ]
Parker, Anne [1 ]
Patricio, Mateus [1 ]
Perry, Emily [1 ]
Pignatelli, Miguel [1 ]
Riat, Harpreet Singh [1 ]
Sheppard, Daniel [1 ]
Taylor, Kieron [1 ]
Thormann, Anja [1 ]
Vullo, Alessandro [1 ]
Wilder, Steven P. [1 ]
Zadissa, Amonida [1 ]
Aken, Bronwen L. [1 ]
Birney, Ewan [1 ]
Harrow, Jennifer [2 ]
Kinsella, Rhoda [1 ]
Muffato, Matthieu [1 ]
Ruffier, Magali [1 ]
Searle, Stephen M. J. [2 ]
Spudich, Giulietta [1 ]
Trevanion, Stephen J. [1 ]
Yates, Andy [1 ]
Zerbino, Daniel R. [1 ]
Flicek, Paul [1 ,2 ]
机构
[1] European Bioinformat Inst, European Mol Biol Lab, Cambridge CB10 1SD, England
[2] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
基金
英国惠康基金; 英国生物技术与生命科学研究理事会;
关键词
DATABASE; SEQUENCE; CONSEQUENCES; DISCOVERY; ACCESS; API;
D O I
10.1093/nar/gku1010
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Ensembl (ext-link-type="uri" xlink:href="http://www.ensembl.org" xlink:type="simple">http://www.ensembl.org) is a genomic interpretation system providing the most up-to-date annotations, querying tools and access methods for chordates and key model organisms. This year we released updated annotation (gene models, comparative genomics, regulatory regions and variation) on the new human assembly, GRCh38, although we continue to support researchers using the GRCh37.p13 assembly through a dedicated site (ext-link-type="uri" xlink:href="http://grch37.ensembl.org" xlink:type="simple">http://grch37.ensembl.org). Our Regulatory Build has been revamped to identify regulatory regions of interest and to efficiently highlight their activity across disparate epigenetic data sets. A number of new interfaces allow users to perform large-scale comparisons of their data against our annotations. The REST server (ext-link-type="uri" xlink:href="http://rest.ensembl.org" xlink:type="simple">http://rest.ensembl.org), which allows programs written in any language to query our databases, has moved to a full service alongside our upgraded website tools. Our online Variant Effect Predictor tool has been updated to process more variants and calculate summary statistics. Lastly, the WiggleTools package enables users to summarize large collections of data sets and view them as single tracks in Ensembl. The Ensembl code base itself is more accessible: it is now hosted on our GitHub organization page (ext-link-type="uri" xlink:href="https://github.com/Ensembl" xlink:type="simple">https://github.com/Ensembl) under an Apache 2.0 open source license.
引用
收藏
页码:D662 / D669
页数:8
相关论文
共 42 条
  • [1] BLUEPRINT to decode the epigenetic signature written in blood
    Adams, David
    Altucci, Lucia
    Antonarakis, Stylianos E.
    Ballesteros, Juan
    Beck, Stephan
    Bird, Adrian
    Bock, Christoph
    Boehm, Bernhard
    Campo, Elias
    Caricasole, Andrea
    Dahl, Fredrik
    Dermitzakis, Emmanouil T.
    Enver, Tariq
    Esteller, Manel
    Estivill, Xavier
    Ferguson-Smith, Anne
    Fitzgibbon, Jude
    Flicek, Paul
    Giehl, Claudia
    Graf, Thomas
    Grosveld, Frank
    Guigo, Roderic
    Gut, Ivo
    Helin, Kristian
    Jarvius, Jonas
    Kueppers, Ralf
    Lehrach, Hans
    Lengauer, Thomas
    Lernmark, Ake
    Leslie, David
    Loeffler, Markus
    Macintyre, Elizabeth
    Mai, Antonello
    Martens, Joost H. A.
    Minucci, Saverio
    Ouwehand, Willem H.
    Pelicci, Pier Giuseppe
    Pendeville, Helene
    Porse, Bo
    Rakyan, Vardhman
    Reik, Wolf
    Schrappe, Martin
    Schuebeler, Dirk
    Seifert, Martin
    Siebert, Reiner
    Simmons, David
    Soranzo, Nicole
    Spicuglia, Salvatore
    Stratton, Michael
    Stunnenberg, Hendrik G.
    [J]. NATURE BIOTECHNOLOGY, 2012, 30 (03) : 224 - 226
  • [2] An integrated map of genetic variation from 1,092 human genomes
    Altshuler, David M.
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Donnelly, Peter
    Eichler, Evan E.
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Green, Eric D.
    Hurles, Matthew E.
    Knoppers, Bartha M.
    Korbel, Jan O.
    Lander, Eric S.
    Lee, Charles
    Lehrach, Hans
    Mardis, Elaine R.
    Marth, Gabor T.
    McVean, Gil A.
    Nickerson, Deborah A.
    Schmidt, Jeanette P.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Dinh, Huyen
    Kovar, Christie
    Lee, Sandra
    Lewis, Lora
    Muzny, Donna
    Reid, Jeff
    Wang, Min
    Wang, Jun
    Fang, Xiaodong
    Guo, Xiaosen
    Jian, Min
    Jiang, Hui
    Jin, Xin
    Li, Guoqing
    Li, Jingxiang
    Li, Yingrui
    Li, Zhuo
    Liu, Xiao
    Lu, Yao
    Ma, Xuedi
    Su, Zhe
    Tai, Shuaishuai
    Tang, Meifang
    [J]. NATURE, 2012, 491 (7422) : 56 - 65
  • [3] An atlas of active enhancers across human cell types and tissues
    Andersson, Robin
    Gebhard, Claudia
    Miguel-Escalada, Irene
    Hoof, Ilka
    Bornholdt, Jette
    Boyd, Mette
    Chen, Yun
    Zhao, Xiaobei
    Schmidl, Christian
    Suzuki, Takahiro
    Ntini, Evgenia
    Arner, Erik
    Valen, Eivind
    Li, Kang
    Schwarzfischer, Lucia
    Glatz, Dagmar
    Raithel, Johanna
    Lilje, Berit
    Rapin, Nicolas
    Bagger, Frederik Otzen
    Jorgensen, Mette
    Andersen, Peter Refsing
    Bertin, Nicolas
    Rackham, Owen
    Burroughs, A. Maxwell
    Baillie, J. Kenneth
    Ishizu, Yuri
    Shimizu, Yuri
    Furuhata, Erina
    Maeda, Shiori
    Negishi, Yutaka
    Mungall, Christopher J.
    Meehan, Terrence F.
    Lassmann, Timo
    Itoh, Masayoshi
    Kawaji, Hideya
    Kondo, Naoto
    Kawai, Jun
    Lennartsson, Andreas
    Daub, Carsten O.
    Heutink, Peter
    Hume, David A.
    Jensen, Torben Heick
    Suzuki, Harukazu
    Hayashizaki, Yoshihide
    Mueller, Ferenc
    Forrest, Alistair R. R.
    Carninci, Piero
    Rehli, Michael
    Sandelin, Albin
    [J]. NATURE, 2014, 507 (7493) : 455 - +
  • [4] Activities at the Universal Protein Resource (UniProt)
    Apweiler, Rolf
    Bateman, Alex
    Martin, Maria Jesus
    O'Donovan, Claire
    Magrane, Michele
    Alam-Faruque, Yasmin
    Alpi, Emanuele
    Antunes, Ricardo
    Arganiska, Joanna
    Casanova, Elisabet Barrera
    Bely, Benoit
    Bingley, Mark
    Bonilla, Carlos
    Britto, Ramona
    Bursteinas, Borisas
    Chan, Wei Mun
    Chavali, Gayatri
    Cibrian-Uhalte, Elena
    Da Silva, Alan
    De Giorgi, Maurizio
    Dogan, Tunca
    Fazzini, Francesco
    Gane, Paul
    Castro, Leyla Garcia
    Garmiri, Penelope
    Hatton-Ellis, Emma
    Hieta, Reija
    Huntley, Rachael
    Legge, Duncan
    Liu, Wudong
    Luo, Jie
    MacDougall, Alistair
    Mutowo, Prudence
    Nightingale, Andrew
    Orchard, Sandra
    Pichler, Klemens
    Poggioli, Diego
    Pundir, Sangya
    Pureza, Luis
    Qi, Guoying
    Rosanoff, Steven
    Saidi, Rabie
    Sawford, Tony
    Shypitsyna, Aleksandra
    Turner, Edward
    Volynkin, Vladimir
    Wardell, Tony
    Watkins, Xavier
    Zellner, Hermann
    Corbett, Matt
    [J]. NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) : D191 - D198
  • [5] The NIH Roadmap Epigenomics Mapping Consortium
    Bernstein, Bradley E.
    Stamatoyannopoulos, John A.
    Costello, Joseph F.
    Ren, Bing
    Milosavljevic, Aleksandar
    Meissner, Alexander
    Kellis, Manolis
    Marra, Marco A.
    Beaudet, Arthur L.
    Ecker, Joseph R.
    Farnham, Peggy J.
    Hirst, Martin
    Lander, Eric S.
    Mikkelsen, Tarjei S.
    Thomson, James A.
    [J]. NATURE BIOTECHNOLOGY, 2010, 28 (10) : 1045 - 1048
  • [6] DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
    Bragin, Eugene
    Chatzimichali, Eleni A.
    Wright, Caroline F.
    Hurles, Matthew E.
    Firth, Helen V.
    Bevan, A. Paul
    Swaminathan, G. Jawahar
    [J]. NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) : D993 - D1000
  • [7] Rfam 11.0: 10 years of RNA families
    Burge, Sarah W.
    Daub, Jennifer
    Eberhardt, Ruth
    Tate, John
    Barquist, Lars
    Nawrocki, Eric P.
    Eddy, Sean R.
    Gardner, Paul P.
    Bateman, Alex
    [J]. NUCLEIC ACIDS RESEARCH, 2013, 41 (D1) : D226 - D232
  • [8] BLAST plus : architecture and applications
    Camacho, Christiam
    Coulouris, George
    Avagyan, Vahram
    Ma, Ning
    Papadopoulos, Jason
    Bealer, Kevin
    Madden, Thomas L.
    [J]. BMC BIOINFORMATICS, 2009, 10
  • [9] Modernizing Reference Genome Assemblies
    Church, Deanna M.
    Schneider, Valerie A.
    Graves, Tina
    Auger, Katherine
    Cunningham, Fiona
    Bouk, Nathan
    Chen, Hsiu-Chuan
    Agarwala, Richa
    McLaren, William M.
    Ritchie, Graham R. S.
    Albracht, Derek
    Kremitzki, Milinn
    Rock, Susan
    Kotkiewicz, Holland
    Kremitzki, Colin
    Wollam, Aye
    Trani, Lee
    Fulton, Lucinda
    Fulton, Robert
    Matthews, Lucy
    Whitehead, Siobhan
    Chow, Will
    Torrance, James
    Dunn, Matthew
    Harden, Glenn
    Threadgold, Glen
    Wood, Jonathan
    Collins, Joanna
    Heath, Paul
    Griffiths, Guy
    Pelan, Sarah
    Grafham, Darren
    Eichler, Evan E.
    Weinstock, George
    Mardis, Elaine R.
    Wilson, Richard K.
    Howe, Kerstin
    Flicek, Paul
    Hubbard, Tim
    [J]. PLOS BIOLOGY, 2011, 9 (07)
  • [10] Locus Reference Genomic sequences: an improved basis for describing human DNA variants
    Dalgleish, Raymond
    Flicek, Paul
    Cunningham, Fiona
    Astashyn, Alex
    Tully, Raymond E.
    Proctor, Glenn
    Chen, Yuan
    McLaren, William M.
    Larsson, Pontus
    Vaughan, Brendan W.
    Beroud, Christophe
    Dobson, Glen
    Lehvaeslaiho, Heikki
    Taschner, Peter E. M.
    den Dunnen, Johan T.
    Devereau, Andrew
    Birney, Ewan
    Brookes, Anthony J.
    Maglott, Donna R.
    [J]. GENOME MEDICINE, 2010, 2