Table 2.
Phasing metrics from application of Unfazed to our DNV data sets
| Data set | % of DNVs phase‐able (mean ± standard deviation) | % of DNVs phased to the paternal chromosome (mean ± standard deviation) | % of DNVs phased to paternal chromosome in trios with ≤100 DNVs (mean ± standard deviation) | % of DNVs phased to paternal chromosome in trios with >100 DNVs (mean ± standard deviation) |
|---|---|---|---|---|
| 1000 Genomes Project | 37.2 ± 7.5 | 61.3 ± 11.3 | 72.0 ± 8.5 | 58.6 ± 10.3 |
| SSC | 37.3 ± 6.6 | 75.1 ± 9.2 | 74.4 ± 8.7 | 75.1 ± 9.4 |
| SPARK WGS1 | 37.5 ± 6.6 | 74.3 ± 9.8 | 74.0 ± 8.8 | 74.4 ± 9.8 |
Abbreviations: DNVs, de novo variants; SPARK,Simons Foundation Powering Autism Research; SSC, Simons Simplex Collection.