• Login
    View Item 
    •   Home
    • Articles and other publications by RIVM employees
    • Miscellaneous
    • View Item
    •   Home
    • Articles and other publications by RIVM employees
    • Miscellaneous
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Browse

    RIVM Publications RepositoryCommunitiesTitleAuthorsIssue DateSubmit Date

    My Account

    LoginRegister

    Statistics

    Display statistics

    Next Generation HGVS Nomenclature Checker.

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Average rating
     
       votes
    Cast your vote
    You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
    Star rating
     
    Your vote was cast
    Thank you for your feedback
    Authors
    Lefter, Mihai
    Vis, Jonathan K
    Vermaat, Martijn
    den Dunnen, Johan T
    Taschner, Peter E M
    Laros, Jeroen F J
    Type
    Article
    Language
    en
    
    Metadata
    Show full item record
    Title
    Next Generation HGVS Nomenclature Checker.
    Published in
    Bioinformatics 2021; 37(18):2811-2817
    DOI
    10.1093/bioinformatics/btab051
    PMID
    33538839
    URI
    http://hdl.handle.net/10029/624685
    ae974a485f413a2113503eed53cd6c53
    10.1093/bioinformatics/btab051
    Scopus Count
    Collections
    Miscellaneous

    entitlement

    Related articles

    • Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.
    • Authors: Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE
    • Issue date: 2008 Jan
    • An efficient algorithm for the extraction of HGVS variant descriptions from sequences.
    • Authors: Vis JK, Vermaat M, Taschner PE, Kok JN, Laros JF
    • Issue date: 2015 Dec 1
    • Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.
    • Authors: den Dunnen JT
    • Issue date: 2016 Jul 1
    • Describing structural changes by extending HGVS sequence variation nomenclature.
    • Authors: Taschner PE, den Dunnen JT
    • Issue date: 2011 May
    • A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.
    • Authors: Laros JF, Blavier A, den Dunnen JT, Taschner PE
    • Issue date: 2011

    DSpace software (copyright © 2002 - 2023)  DuraSpace
    Quick Guide | Contact Us
    Open Repository is a service operated by 
    Atmire NV
     

    Export search results

    The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

    By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

    To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

    After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.