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Allele definition

388 bytes added, 09:05, 27 February 2019
How to obtain PGx allele definitions from literature
* PGx alleles on Excel-style formats, also accessible through the PharmGKB API (seems to be hidden from the Swagger documentation, but direct links when searching for haplotype definitions at the pharmgkb.org website)
* [https://github.com/PharmGKB/PharmCAT/tree/master/src/main/resources/org/pharmgkb/pharmcat/definition/alleles PGx alleles for use in PharmCAT] are included in their source code. It is reasonable to suspect that these files are parsed from the Excel files.
* [https://github.com/inumanag/aldy/tree/master/aldy/resources/genes PGx alles for use in Aldy] are included in their source code. Due to the lack of GRCh37 variant definitions for CYP2D6, Aldy has likely lifted over GRCh38 variants to GRCh37. The Aldy developers have also added new star alleles with (non functional) variants that are often observed together with the main star allele.
* PGx alleles as VCF files from [https://www.pharmvar.org PharmVar]