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HGVS to hg19 conversion

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  • thedamian
    replied
    Seems promising. I will examine Web Serivices they provide.
    Thank you

    Leave a comment:


  • BAMseek
    replied
    Take a look at Mutalyzer . I copied and pasted "NM_001100.3:c.7G>T" into the box and get NC_000001.10:g.229568856C>A as the result.

    Justin

    Leave a comment:


  • thedamian
    started a topic HGVS to hg19 conversion

    HGVS to hg19 conversion

    Hi,

    Is there any command line tool or method that allow for an easy translation from HGVS to hg19 coordinates?
    for example:

    as an inptu I'd like to provde: NM_001100.3:c.7G>T and the output should be like hg19:229568857:229568858.

    Thanks in advance

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