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Volumn 37, Issue 4, 2016, Pages 344-349

VariOtator, a Software Tool for Variation Annotation with the Variation Ontology

Author keywords

Annotation; Bioinformatics; Database; LOVD; LSDB; Mutation; Ontology; Software; Variation; Variation Ontology

Indexed keywords

DNA; PROTEIN VARIANT; RNA;

EID: 84960487212     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22954     Document Type: Article
Times cited : (4)

References (25)
  • 7
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
    • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 13
    • 33751011339 scopus 로고    scopus 로고
    • Immunodeficiency mutation databases (IDbases)
    • Piirilä H, Väliaho J, Vihinen M. 2006. Immunodeficiency mutation databases (IDbases). Hum Mutat 27:1200-1208.
    • (2006) Hum Mutat , vol.27 , pp. 1200-1208
    • Piirilä, H.1    Väliaho, J.2    Vihinen, M.3
  • 14
    • 0033400946 scopus 로고    scopus 로고
    • MUTbase: maintenance and analysis of distributed mutation databases
    • Riikonen P, Vihinen M. 1999. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15:852-859.
    • (1999) Bioinformatics , vol.15 , pp. 852-859
    • Riikonen, P.1    Vihinen, M.2
  • 15
    • 84964475239 scopus 로고    scopus 로고
    • Genetic variation in Bruton tyrosine kinase
    • In: Plebani A, Lougaris V, editors. . Switzerland: Springer International Publishing.
    • Schaafsma GCP, Vihinen M. 2015. Genetic variation in Bruton tyrosine kinase. In: Plebani A, Lougaris V, editors. Agammaglobulinemia. Switzerland: Springer International Publishing. p 75-85.
    • (2015) Agammaglobulinemia , pp. 75-85
    • Schaafsma, G.C.P.1    Vihinen, M.2
  • 17
    • 84946069451 scopus 로고    scopus 로고
    • UniProt: a hub for protein information
    • UniProt Consortium . 2015. UniProt: a hub for protein information. Nucleic Acids Res 43:D204-D212.
    • (2015) Nucleic Acids Res , vol.43 , pp. D204-D212
    • Consortium, U.1
  • 18
    • 33750973379 scopus 로고    scopus 로고
    • BTKbase: the mutation database for X-linked agammaglobulinemia
    • Väliaho J, Smith CIE, Vihinen M. 2006. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat 27:1209-1217.
    • (2006) Hum Mutat , vol.27 , pp. 1209-1217
    • Väliaho, J.1    Smith, C.I.E.2    Vihinen, M.3
  • 20
    • 84893636595 scopus 로고    scopus 로고
    • Variation Ontology for annotation of variation effects and mechanisms
    • Vihinen M. 2014a. Variation Ontology for annotation of variation effects and mechanisms. Genome Res 24:356-364.
    • (2014) Genome Res , vol.24 , pp. 356-364
    • Vihinen, M.1
  • 21
    • 84925504770 scopus 로고    scopus 로고
    • Variation Ontology: annotator guide
    • Vihinen M. 2014b. Variation Ontology: annotator guide. J Biomed Semantics 5:9.
    • (2014) J Biomed Semantics , vol.5 , pp. 9
    • Vihinen, M.1
  • 22
    • 84938288116 scopus 로고    scopus 로고
    • Muddled genetic terms miss and mess the message
    • Vihinen M. 2015a. Muddled genetic terms miss and mess the message. Trends Genet 31:423-425.
    • (2015) Trends Genet , vol.31 , pp. 423-425
    • Vihinen, M.1
  • 23
    • 84925520236 scopus 로고    scopus 로고
    • Types and effects of protein variations
    • Vihinen M. 2015b. Types and effects of protein variations. Hum Genet 134:405-421.
    • (2015) Hum Genet , vol.134 , pp. 405-421
    • Vihinen, M.1
  • 25
    • 38149063754 scopus 로고    scopus 로고
    • Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
    • Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13.
    • (2008) Hum Mutat , vol.29 , pp. 6-13
    • Wildeman, M.1    van Ophuizen, E.2    den Dunnen, J.T.3    Taschner, P.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.