The Ensembl gene annotation system

被引:524
作者
Aken, Bronwen L. [1 ,2 ]
Ayling, Sarah [2 ,3 ]
Barrell, Daniel [1 ,2 ,4 ]
Clarke, Laura [2 ,5 ]
Curwen, Valery [2 ]
Fairley, Susan [2 ,5 ]
Banet, Julio Fernandez [2 ,6 ]
Billis, Konstantinos [1 ,2 ]
Giron, Carlos Garcia [1 ,2 ]
Hourlier, Thibaut [1 ,2 ]
Howe, Kevin [2 ,5 ]
Kahari, Andreas [2 ,7 ]
Kokocinski, Felix [2 ]
Martin, Fergal J. [1 ,2 ]
Murphy, Daniel N. [1 ,2 ]
Nag, Rishi [1 ,2 ]
Ruffier, Magali [2 ,5 ]
Schuster, Michael [1 ,8 ]
Tang, Y. Amy [2 ,5 ]
Vogel, Jan-Hinnerk [2 ,9 ]
White, Simon [2 ,10 ]
Zadissa, Amonida [2 ,5 ]
Flicek, Paul [1 ,2 ]
Searle, Stephen M. J. [2 ]
机构
[1] European Bioinformat Inst Wellcome Genome Campus, European Mol Biol Lab, Cambridge CB10 1SD, England
[2] Wellcome Trust Sanger Inst Wellcome Genome Campus, Cambridge CB10 1SA, England
[3] Genome Anal Ctr, Norwich Res Pk, Norwich NR4 7UH, Norfolk, England
[4] Eagle Genom Ltd, Babraham Res Campus, Cambridge CB22 3AT, England
[5] European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge CB10 1SD, England
[6] Pfizer Inc, 10646 Sci Ctr Dr, San Diego, CA 92121 USA
[7] Uppsala Univ, Inst Cell Molekylarbiol, Husargatan 3, S-75237 Uppsala, Sweden
[8] Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria
[9] Genentech Inc, 1 DNAWay, San Francisco, CA 94080 USA
[10] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
来源
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION | 2016年
基金
英国生物技术与生命科学研究理事会; 英国惠康基金;
关键词
GENOME PROVIDES INSIGHTS; SEQUENCE; REVEALS; EVOLUTION; ALIGNMENT; DATABASE; ZEBRAFISH; IDENTIFICATION; COMPLEXITY; GENERATION;
D O I
10.1093/database/baw093
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
The Ensembl gene annotation system has been used to annotate over 70 different vertebrate species across a wide range of genome projects. Furthermore, it generates the automatic alignment-based annotation for the human and mouse GENCODE gene sets. The system is based on the alignment of biological sequences, including cDNAs, proteins and RNA-seq reads, to the target genome in order to construct candidate transcript models. Careful assessment and filtering of these candidate transcripts ultimately leads to the final gene set, which is made available on the Ensembl website. Here, we describe the annotation process in detail.
引用
收藏
页数:19
相关论文
共 106 条
  • [1] The genome of the green anole lizard and a comparative analysis with birds and mammals
    Alfoeldi, Jessica
    Di Palma, Federica
    Grabherr, Manfred
    Williams, Christina
    Kong, Lesheng
    Mauceli, Evan
    Russell, Pamela
    Lowe, Craig B.
    Glor, Richard E.
    Jaffe, Jacob D.
    Ray, David A.
    Boissinot, Stephane
    Shedlock, Andrew M.
    Botka, Christopher
    Castoe, Todd A.
    Colbourne, John K.
    Fujita, Matthew K.
    Moreno, Ricardo Godinez
    ten Hallers, Boudewijn F.
    Haussler, David
    Heger, Andreas
    Heiman, David
    Janes, Daniel E.
    Johnson, Jeremy
    de Jong, Pieter J.
    Koriabine, Maxim Y.
    Lara, Marcia
    Novick, Peter A.
    Organ, Chris L.
    Peach, Sally E.
    Poe, Steven
    Pollock, David D.
    de Queiroz, Kevin
    Sanger, Thomas
    Searle, Steve
    Smith, Jeremy D.
    Smith, Zachary
    Swofford, Ross
    Turner-Maier, Jason
    Wade, Juli
    Young, Sarah
    Zadissa, Amonida
    Edwards, Scott V.
    Glenn, Travis C.
    Schneider, Christopher J.
    Losos, Jonathan B.
    Lander, Eric S.
    Breen, Matthew
    Ponting, Chris P.
    Lindblad-Toh, Kerstin
    [J]. NATURE, 2011, 477 (7366) : 587 - 591
  • [2] BASIC LOCAL ALIGNMENT SEARCH TOOL
    ALTSCHUL, SF
    GISH, W
    MILLER, W
    MYERS, EW
    LIPMAN, DJ
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1990, 215 (03) : 403 - 410
  • [3] OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
    Amberger, Joanna S.
    Bocchini, Carol A.
    Schiettecatte, Francois
    Scott, Alan F.
    Hamosh, Ada
    [J]. NUCLEIC ACIDS RESEARCH, 2015, 43 (D1) : D789 - D798
  • [4] The African coelacanth genome provides insights into tetrapod evolution
    Amemiya, Chris T.
    Alfoeldi, Jessica
    Lee, Alison P.
    Fan, Shaohua
    Philippe, Herve
    MacCallum, Iain
    Braasch, Ingo
    Manousaki, Tereza
    Schneider, Igor
    Rohner, Nicolas
    Organ, Chris
    Chalopin, Domitille
    Smith, Jeramiah J.
    Robinson, Mark
    Dorrington, Rosemary A.
    Gerdol, Marco
    Aken, Bronwen
    Biscotti, Maria Assunta
    Barucca, Marco
    Baurain, Denis
    Berlin, Aaron M.
    Blatch, Gregory L.
    Buonocore, Francesco
    Burmester, Thorsten
    Campbell, Michael S.
    Canapa, Adriana
    Cannon, John P.
    Christoffels, Alan
    De Moro, Gianluca
    Edkins, Adrienne L.
    Fan, Lin
    Fausto, Anna Maria
    Feiner, Nathalie
    Forconi, Mariko
    Gamieldien, Junaid
    Gnerre, Sante
    Gnirke, Andreas
    Goldstone, Jared V.
    Haerty, Wilfried
    Hahn, Mark E.
    Hesse, Uljana
    Hoffmann, Steve
    Johnson, Jeremy
    Karchner, Sibel I.
    Kuraku, Shigehiro
    Lara, Marcia
    Levin, Joshua Z.
    Litman, Gary W.
    Mauceli, Evan
    Miyake, Tsutomu
    [J]. NATURE, 2013, 496 (7445) : 311 - 316
  • [5] [Anonymous], GENOME BIOL S1
  • [6] [Anonymous], BIOASSAYS
  • [7] 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
  • [8] Melanocortin 4 receptor mutations contribute to the adaptation of cavefish to nutrient-poor conditions
    Aspiras, Ariel C.
    Rohner, Nicolas
    Martineau, Brian
    Borowsky, Richard L.
    Tabin, Clifford J.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (31) : 9668 - 9673
  • [9] The PRINTS database: a fine-grained protein sequence annotation and analysis resource-its status in 2012
    Attwood, Teresa K.
    Coletta, Alain
    Muirhead, Gareth
    Pavlopoulou, Athanasia
    Philippou, Peter B.
    Popov, Ivan
    Roma-Mateo, Carlos
    Theodosiou, Athina
    Mitchell, Alex L.
    [J]. DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION, 2012,
  • [10] GenBank
    Benson, Dennis A.
    Clark, Karen
    Karsch-Mizrachi, Ilene
    Lipman, David J.
    Ostell, James
    Sayers, Eric W.
    [J]. NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) : D32 - D37