matthiaskoenig / pkdb

Pharmacokinetics database
https://alpha.pk-db.com
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Improve genetic variant information #577

Open matthiaskoenig opened 4 years ago

matthiaskoenig commented 4 years ago

The additional meta-data on genetic variants is very limited. A detailed encoding of genetic variants is required which we then reference when encoding genetic variants of genes. Pharmvar just lunched their REST API. This finally allows to easily integrate with the information on genetic variants (https://www.pharmvar.org/documentation) and use a common nomenclature. See for instance https://www.pharmvar.org/gene/CYP2D6

See also #102.

matthiaskoenig commented 3 years ago

Additional information is available from the https://cpicpgx.org/ consortium.