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The Number of Variants Remaining After Each Stage of the Prioritization Process
| Description | No. of Variants | |
|---|---|---|
| Quality Control Filters | 11,509,434 | |
| Family-Private Variants | 3,069,960 | |
| Full | Reduced | |
|---|---|---|
| Cosegregation Pattern | 57,253 | 172,748 |
| In the Coding Sequence | 515 | 1904 |
| Ultrarare in gnomAD | 50 | 210 |
| Functional Relevance | 0 | 10 |
| LoF-Intolerant Gene | 0 | 3 |
Counts on the left are for full cosegregation and on the right are for reduced cosegregation.
gnomAD, Genome Aggregation Database; LoF, loss-of-function.
