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.