296
edits
Changes
→Challenges and solutions
| [[Allele definition|Multiple allele matches]] || Made hierarchy of alleles based on the biochemical function (No function > Decreased Function > Other functional statuses) || Probably this can be seen as a variant of the best solution to the [[Unknown function|unknown function problem]]: Look for the most serious consequence, and if not found, assume Normal function.
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| Haplotype calling || Eagle2. In case there were more than one star allele match per haplotype, they matched all possible star allele diplotypes , and picked the diplotype with the most serious clinical consequence || Haplotype estimation for WGS was performed, but it is unclear which method was used (Eagle2 as for microarrays, probably)
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| CYP2D6 calling || Combination of Genome STRiP and normal allele matching (favorable comparison to Astrolabe used by PharmCAT) || Did not understand exactly how they did it (maybe check out reference by [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292679/ ''Gaedigk et al.''])
