User: hannes

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hannes0
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Posts by hannes

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Comment: C: Genomic coordinates from traditional HGVS variants
... Unfortunately, VEP also doesn't seem to understand the deprecated nomenclature that uses IVS# for intronic variants. ...
written 4 weeks ago by hannes0
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Comment: C: Genomic coordinates from traditional HGVS variants
... @finswimmer Thank you, maybe I should've been more explicit. The HGVS Recommendations (https://www.hgvs.org/mutnomen/disc.html#tradition) say this about traditional descriptions: > Although annoying, traditional descriptions should not be used anymore. When one uses the recommended descriptions ...
written 4 weeks ago by hannes0
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Genomic coordinates from traditional HGVS variants
... Does anyone know of a reliable workflow to convert traditional/deprecated HGVS variants such as "HBB:IVS2+705T>G" to genomic coordinates or current Sequence Variant Nomenclature (http://varnomen.hgvs.org)? I'm aware of the `hgvs` and `pyhvgs` Python packages, but those don't understand the depre ...
hgvs variants written 4 weeks ago by hannes0 • updated 4 weeks ago by Emily_Ensembl16k

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