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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

 

Sanger

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.
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Genome Biology

ISSN: 1474-760X

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