Table 1. . Overview of possible discrepancies between gold-standard results and the results of other constrained views of assays.
Gold-standard haplotype result (based on FULL view) |
Assay-specific haplotype result |
||
---|---|---|---|
Call | No-call | ||
|
Call |
If haplotype called by assay is also called by gold standard: ‘nonproblematic call’. If haplotype called by assay is not also called by gold standard: ‘problematic call’ |
No-call due to lack of coverage of assay |
No-call | ‘Problematic call’ because sample does not match any defined haplotype, but platform calls haplotype because it interrogates only some genetic loci | No-call due to lack of coverage of both assay and haplotype definition table |