Anonymous

Changes

PGx in Estonia

14 bytes removed, 12:23, 24 August 2018
Challenges and solutions
| [[Allele definition]] || Pruning of allele definitions (removing variants from allele definitions (i.e. only keeping variants that destroys the protein), removing [[Unknown function|alleles with unknown function]]) || The allele pruning also makes it more likely that patients are indeed normal, removing most sources to [[Unknown function|alleles with unknown function]]
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| [[NGS|HLA-typing]] || [https://www.ncbi.nlm.nih.gov/pubmed/23762245 SNP2HLA ] tool (WGS only) || SNP2HLA is a fast and reasonably accurate tool, but A review of HLA-typing methods [https://www.ncbi.nlm.nih.gov/pubmed/27802932 from Bauer ''et al.''] it seems that in a clinical setting, other tools may be considereddoes not mention this tool
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| [[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 no allele with serious consequence was found, assume Normal function.