HGVS to hg19 conversion

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thedamian

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Join Date: Feb 2012

Posts: 50
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#1

HGVS to hg19 conversion

04-09-2013, 06:05 AM

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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BAMseek

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Join Date: Apr 2011

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#2

04-09-2013, 06:26 AM

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
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thedamian

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Join Date: Feb 2012

Posts: 50
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#3

04-10-2013, 12:44 AM

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