Difference between revisions of "Allele definition"
Farmakorakel (talk | contribs) m (→How to define PGx alleles) |
Farmakorakel (talk | contribs) (→How to define PGx alleles) |
||
| Line 1: | Line 1: | ||
==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)== | ||
Revision as of 13:53, 12 July 2018
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
