Table 2.

Coverage and accuracy of the Illumina 1M BeadChip genotyped sites of the called consensus sequence

The called consensus sequence was compared with the genotyping on the same DNA sample. We sequenced a male, so chromosome X is haploid. The genotyped sites were classified into: (1) HOM reference, homozygotes where both alleles are identical to the reference; (2) HOM mutant, homozygotes where both alleles differ from the reference; and (3) HET, heterozygotes.

FP, false-positive; FN, false-negative.