Genotype calling consistency Sample Clauses

Genotype calling consistency. Using the CGI genotype calls as the gold standard, we evaluated the genotype call- ing accuracy of RefEdit/RefEdit+ with three competing methods at 13 different sequencing depths (0.5x, 1x, 2x, 4x, 6x, 8x, 10x, 12x, 14x, 16x, 18x, 20x, 22x) on in- dividual NA19238. For each sequencing depth, performance comparison is conducted on the subset of non-ref/ref genotypes (according to CGI genotypes) that are called by GATK [54]. Figure 3.7[A] shows the concordance of the non-ref/ref genotypes for five different mapping methods. As expected, the genotype call consistency improves
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