Table 2.
Number of total and phased ground-truth variants. For each sample, the table shows the total number of homozygous and heterozygous variants identified by Illumina data and the number of heterozygous variants phased by 10× Genomics or trio analysis. SNVs = single nucleotide variants, Indels = insertion/deletion variants.
| Sample Name | Homozygous Variants | Heterozygous Variants | Heterozygous Phased Variants | |||
|---|---|---|---|---|---|---|
| SNVs | Indels | SNVs | Indels | SNVs | Indels | |
| NA12878 | 0 | 0 | 10 | 1 | 10 | 1 |
| NA12892 | 0 | 0 | 4 | 0 | 4 | 0 |
| V1 | 6 | 3 | 11 | 1 | 11 | 1 |
| V2 | 4 | 0 | 6 | 2 | 6 | 1 |
| V3 | 4 | 1 | 4 | 1 | 4 | 1 |