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Allele definition

1 byte removed, 14:48, 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.
[[Fil:Variant tree outline.png|miniatyr|The 16 possible haplotypes for a four loci, decomposed varinant variant calling]]
This means that
*Patients may have a large, ambiguous number of matching PGx alleles