Difference between revisions of "Allele definition"
Farmakorakel (talk | contribs) m (→Require matches also for variants not explicitly included in PGx allele definitions (The PharmCAT method)) |
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==The PharmCAT method== | ==The PharmCAT method== | ||
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Revision as of 13:59, 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
This definition require matches also for variants not explicitly included in PGx allele definitions.
