메뉴 건너뛰기




Volumn 1492, Issue , 2017, Pages 243-251

Describing sequence variants using HGVS nomenclature

Author keywords

Database; DNA; Mutation; Nomenclature; Protein; RNA; Standards; Variant

Indexed keywords

DNA SEQUENCE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENETIC VARIATION; NOMENCLATURE; RNA SEQUENCE; HUMAN; PROCEDURES; SOFTWARE;

EID: 84994893756     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4939-6442-0_17     Document Type: Chapter
Times cited : (32)

References (10)
  • 1
    • 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
  • 2
    • 0029848852 scopus 로고    scopus 로고
    • Update on nomenclature for human gene mutations
    • Ad Hoc Committee on Mutation Nomenclature (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
    • (1996) Hum Mutat , vol.8 , pp. 197-202
  • 3
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Antonarakis SE (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 4
    • 84961616450 scopus 로고    scopus 로고
    • HGVS recommendations for the description of sequence variants: 2016 update
    • Den Dunnen JT, Dalgelish R, Maglott DR et al (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 37:564-569
    • (2016) Hum Mutat , vol.37 , pp. 564-569
    • Den Dunnen, J.T.1    Dalgelish, R.2    Maglott, D.R.3
  • 5
    • 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 et al (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
  • 6
    • 84928990715 scopus 로고    scopus 로고
    • A Python package for parsing, validating, mapping and formatt ing sequence variants using HGVS nomenclature
    • Hart RK, Rico R, Hare E et al (2014) A Python package for parsing, validating, mapping and formatt ing sequence variants using HGVS nomenclature. Bioinformatics 31:268-270
    • (2014) Bioinformatics , vol.31 , pp. 268-270
    • Hart, R.K.1    Rico, R.2    Hare, E.3
  • 7
    • 77954314621 scopus 로고    scopus 로고
    • Locus Reference Genomic sequences: An improved basis for describing human DNA variants
    • 1-24.7
    • Dalgleish R, Flicek P, Cunningham F et al (2010) Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med 2:24.1-24.7
    • (2010) Genome Med , vol.2
    • Dalgleish, R.1    Flicek, P.2    Cunningham, F.3
  • 8
    • 84976871272 scopus 로고    scopus 로고
    • Reference sequence (RefSeq) database at NCBI: Current status, taxonomic expansion, and functional annotation
    • O’Leary NA, Wright MW, Brister JR et al (2016) Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res 44:D733-D745
    • (2016) Nucleic Acids Res , vol.44 , pp. D733-D745
    • O’Leary, N.A.1    Wright, M.W.2    Brister, J.R.3
  • 9
    • 84987566762 scopus 로고
    • Nomenclature and symbolism for amino acids and peptides. Recommendations 1983
    • IUPAC-IUB Joint Commission on Biochemical Nomenclature (1984) Nomenclature and symbolism for amino acids and peptides. Recommendations 1983. Eur J Biochem 138:9-37
    • (1984) Eur J Biochem , vol.138 , pp. 9-37
  • 10
    • 84950237588 scopus 로고    scopus 로고
    • An efficient algorithm for the extraction of HGVS variant descriptions from sequences
    • Vis JK, Vermaat M, Taschner PE, et al (2015) An efficient algorithm for the extraction of HGVS variant descriptions from sequences. Bioinformatics 31:3751-3757
    • (2015) Bioinformatics , vol.31 , pp. 3751-3757
    • Vis, J.K.1    Vermaat, M.2    Taschner, P.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.