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Filtering criteria for LOF curation
| Filtering criterion | Tested values | Best value |
|---|---|---|
| Cutoff for sequencing read depth (median across exomes) | 0×, 5×, 10×, 20× | 0× |
| Cutoff for mean pext across tissues | 0.05, 0.1 | 0.05 |
| Filter if variant falls in a segmental duplication or low mappability region | True, False | True |
| Filter if variant is flagged as potentially problematic | True, False | True |
