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Table 1 Annotations of the genotypes differences to illustrate the definition of the metrics used to compare ABI Sanger and NGS Technologies

From: Evaluation of next generation sequencing platforms for population targeted sequencing studies

NGS technology Homozygous reference Heterozygous Homozygous alternate N/N
Homozygous reference A1 A2 A3 A4
Heterozygous B1 B2 B3 B4
Homozygous alternate C1 C2 C3 C4
N/N D1 D2 D3 D4
  1. N/N: positions at which genotype was not called.