Table 1 |
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|
Annotations of the genotypes differences to illustrate the definition of the metrics used to compare ABI Sanger and NGS Technologies |
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|
Sanger |
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|
|
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|
NGS technology |
Homozygous reference |
Heterozygous |
Homozygous alternate |
N/N |
|
|
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|
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. |
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|
Harismendy et al. Genome Biology 2009 10:R32 doi:10.1186/gb-2009-10-3-r32 |
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