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Allele definition

609 bytes added, 13:53, 12 July 2018
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*Traditional 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 NGS method)==