Table 3.
Filter | Total variant | Phased from | Phased from | Agreed | Discordant | Fraction of |
---|---|---|---|---|---|---|
sites | bulk data | monosomies | discordance | |||
None | 2,475,311 | 2,242,237 | 2,320,153 | 2,101,195 | 40,006 | 0.019 |
Allele fractiona | 2,172,689 | 2,087,188 | 2,109,589 | 2,018,906 | 12,903 | 0.006 |
Linkageb | 2,156,423 | 2,156,346 | 2,071,674 | 2,054,006 | 17,616 | 0.009 |
Combinedc | 2,054,859 | 2,054,832 | 2,001,674 | 1,993,552 | 8,098 | 0.004 |
aFrom single-cell data: minor allele fraction ≥0.3 in disomic regions and in the [0.18,0.48] range in the trisomic region of Chr.10q
b ≥1 link connecting ref, alt, HapA, and HapB & minor linkage ≤2 or minor linkage/total linkage ≤0.1
cWith both the allele fraction (a) and the linkage (b) filter