Table 1

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

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


N/N: positions at which genotype was not called.

Harismendy et al. Genome Biology 2009 10:R32   doi:10.1186/gb-2009-10-3-r32

Open Data