296
edits
Changes
→Challenges and solutions
| [[NGS|HLA-typing]] || SNP2HLA tool (WGS only) || SNP2HLA is a fast and reasonably accurate tool, but [https://www.ncbi.nlm.nih.gov/pubmed/27802932 from another article] it seems that in a clinical setting, other tools may be considered
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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 not no allele with serious consequence was found, assume Normal function.
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| Haplotype calling || (Eagle2, most likely) 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)
