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Table 1 Genotype concordance between genotyping and sequencing platforms

From: Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics

Comparison

PPA (%)

NPA (%)

No Calls (Average)

Accuracy, .4x vs PMRA

98.22%

99.82%

2535

Accuracy, .6x vs PMRA

98.76%

99.85%

1848

Accuracy, .8x vs PMRA

99.01%

99.86%

1508

Accuracy, 1x vs PMRA

99.19%

99.88%

1251

  1. In all cases the genotyping array was treated as ‘Truth’. Positive % Agreement (PPA)– The percent of non-reference calls in the Truth dataset detected by Test, ignoring no calls in Test. (True Positives / True Positives + False Negatives). Negative % Agreement (NPA) – The percent of reference calls in the Truth dataset detected by Test, ignoring no calls in Test. (True Negatives / True Negatives + False Positives). No Calls– Count of No Calls in test that were variant in Truth. No calls are averaged across all 79 individuals. The total number of overlapping variants between the PMRA and the imputed sequence data is ~ 423 k