Depending on the method used, rare sequence variants adjacent to the SNP of interest may cause unusual genotyping results. Therefore, a European proficiency study was organised to assess their influence on the laboratory results. The rare mutations were reported as "usual" genotypes in more than 50 % of cases, 21 % were attributed to technical issues and only 24.3 % were correctly identified. Of note, allele-specific amplification based PCR had a much higher error rate than other methods (18.3 % vs. 2.9 %). In conclusion, only a limited number of the participants could recognize and adequately report rare SNPs resulting in unusual genotyping results.
MARKI-ZAY Janos;
KLEIN Christoph;
GANCBERG David;
SCHIMMEL Heinz;
DUX L.;
2009-03-30
AMER ASSOC CLINICAL CHEMISTRY
JRC46807
0009-9147,
https://publications.jrc.ec.europa.eu/repository/handle/JRC46807,
10.1373/clinchem.2008.112102,
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