Table 6.
Previous SSC exome study comparison
| Pedigree | Location | Ref → Alt/effect | Gene | Type | HC/Filtered out | FB/Filtered out | MA/Filtered out | CADD score |
|---|---|---|---|---|---|---|---|---|
| SSC_12605 | 10:103908608 | sub (C → T)/missense | PPRC1 | De novo | Yes/no | Yes/yes | Yes/no | 19.5 |
| SSC_12605 | 1:209823359 | sub (C → T)/missense | LAMB3 | De novo | Yes/yes | Yes/yes | Yes/no | 22.7 |
| SSC_12605 | 3:185993461 | sub (C → T)/missense | DGKG | De novo | Yes/no | Yes/yes | Yes/no | 7.5 |
SSC, Simons Simplex Collection; HC, haplotype caller; FB, FreeBayes; MA, multinomial analyzer; CADD, combined annotation dependent depletion.