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Question: Genomic Cordinate to HGVS format
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gravatar for goyal.swati
4.3 years ago by
goyal.swati • 0
goyal.swati • 0 wrote:

Hi,

I want to convert genomic coordinate at variant location in HGVS format. Are there any libraries or tools available for that ?

Example : For Chr9: 34649442 A to G should give GALT_c.940A>G for given transcript.

Thanks !
hgvs • 1.1k views
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modified 4.3 years ago by dyollluap • 300 • written 4.3 years ago by goyal.swati • 0
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gravatar for dyollluap
4.3 years ago by
dyollluap • 300
USA, California, Bay Area
dyollluap • 300 wrote:

If you have the input data as a VCF format file, use VEP to annotate the genomic coordinates and select HGVS in the outputs (--hgvs).

ADD COMMENT • link written 4.3 years ago by dyollluap • 300
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