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In addition to this expected pattern, we also found such variants represented as typical SNPs (and not indels), but with missing genotypes present at one locus instead of a deletion state.
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This paper presents an exact test for HWE that takes missing genotypes into account.
In addition to observed genotypes, our approach allows estimation of missing genotypes, resulting in substantial increases in power when genotyping resources are limited.
The performance of the genotyping assay for each method was assessed using three criteria: missing genotypes (assay fail rates), incomplete genotypes (loci departing from HWE) and inaccurate genotypes (inconsistent genotypes across replicate samples).
This has resulted in high rates of missing genotypes (assay fail rates of 21%), incomplete genotypes (64% of loci departing from HWE) and inaccurate genotypes (1% of genotypes inconsistent across replicates).
SNPs with ≥2 missing genotypes were excluded.
The overall rate of missing genotypes was 9%.
Based on estimated parameters, missing genotypes are inferred.
Samples were screened for the proportion of missing genotypes, and animals with greater than 10% missing genotypes were removed.
Regarding missing genotypes, PGMDR discards families entirely when data on one SNP are missing.
For these analyses, missing genotypes were replaced with the mean genotype score for that SNP.
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