Allele definition

Revision as of 13:53, 12 July 2018 by Farmakorakel (talk | contribs) (→‎How to define PGx alleles)

How to define PGx alleles

PGx alleles are defined as collections of one or more SNPs, INDELs or structural variants. When a patient is sequenced by next generation sequencing (NGS) we may typically observe more variants than those which are included in any individual PGx allele definitions. This means that

  • Patients may have a large, ambiguous number of matching PGx alleles
  • Patients may have additional variants that may modify the effect of a known PGx allele


Require matches only for variants explicitly included in PGx allele definitions (The SNP array method)

Require matches also for variants not explicitly included in PGx allele definitions (The PharmCAT method)

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