Difference between revisions of "Allele definition"
Farmakorakel (talk | contribs) m (→Require matches only for variants explicitly included in PGx allele definitions (The SNP array method)) |
Farmakorakel (talk | contribs) m (→Require matches also for variants not explicitly included in PGx allele definitions (The PharmCAT method)) |
||
| Line 10: | Line 10: | ||
*But the presence of additional variants will have no effect on reported PGx alleles | *But the presence of additional variants will have no effect on reported PGx alleles | ||
| − | ==Require matches also for variants not explicitly included in PGx allele definitions | + | ==The PharmCAT method== |
| + | Require matches also for variants not explicitly included in PGx allele definitions | ||
Revision as of 13:58, 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
The SNP array method
This definition requires matches only for variants explicitly included in PGx allele definitions. This means that
- Several PGx alleles may match to the patient
- But the presence of additional variants will have no effect on reported PGx alleles
The PharmCAT method
Require matches also for variants not explicitly included in PGx allele definitions
