296
edits
Changes
→Take home messages
* Haplotype calling essential
* Prefiltering (pruning) of the allele definition tables provided by PharmGKB
* Rare variants (< 1% mean allele frequency) account for 89% of all (different kinds of) deleterious mutations(affect 30-40% of patients according to ''Lauschke et al.'')
* Rare variants should only be used for research
* Multiple star alleles are for some genes expected on same haplotype. Suggestion: look for the functional effect of variants within star alleles instead of looking for star alleles, making decision trees that prioritize variants
