Open main menu

Farmakorakels Wiki β

Changes

Allele definition

112 bytes added, 14:35, 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|All possible haplotypes for a four loci, decomposed varinant calling]]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