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  • Find synonymous HGVS expressions

    Dear Forum,

    I was wondering if there was a tool that could convert some HGVS expressions into all its synonymous HGVS expressions, also taking into consideration additional information on the reference sequence...

    Some artificial examples:
    1)
    627364_627372delACTGTCTACinsGT
    can also be expressed by:
    627364A>G
    627365_627365delC
    627368_627372delGTCTAC

    or by:
    627364_627366delACT
    627369_627372delCTAC

    2)
    457845_457848dupAGC
    is equivalent to:
    457845_457846insAGC
    but vice versa only if the reference sequence has the bases "AGC" on positions 457843 to 457845.

    Is there any tool to calculate all possible synonyms for given HGVS expressions+sequences?

    I am looking forward to your answers!
    Bests,
    Roman

  • #2
    Try Mutalyzer https://mutalyzer.nl/positionConverter

    Comment


    • #3
      Thanks for you reply! I tried Mutalyzer already, but I think it doesn't really do what I want.. It does not check for synonymous HGVS expressions. It just converts the coordinates from one reference sequence to another, as far as I understand...

      Comment

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