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. 2015 Aug 27;97(3):435–444. doi: 10.1016/j.ajhg.2015.07.017

Table 1.

Summary of Haplotype Phasing

Number of Trios Total Sites All Missing Sites Sites of Mendelian Errors Unphaseable Sites Inconsistent Sites Phased Sites
Family 1 5 189,280 1,016 21 3,282 3 187,363
(98.98%)
Family 2 4 189,280 1,087 2 3,246 2 186,505
(98.53%)
Family 3 3 189,280 940 6 789 3 187,582
(99.10%)
Family 4 4 189,280 858 39 1,691 11 187,540
(99.08%)

For a given family, phased haplotypes were generated for 189,280 contiguous sites (chr4: 3,066,408–3,255,687; hg19 assembly) in complete trios from Figure 1. Missing sites were those not called in any trio member. Unphaseable sites were (1) variants heterozygous in all three trio members and (2) variants that could not be phased because of missing genotypes. Inconsistent sites had different phased allele calls within a family.