Table 1 Number of remaining variants per family dataset according to the filtering strategy
Family dataset | FMD exomes (N) | Control dataset (N) | PAVAR score ≥5 (N) | Exomiser score ≥1.46 × 10−5 (N) | VAAST (p value ≤1) | VAAST-Phevor (p value ≤1) | CADD score ≥15 (N) | FATHMM score ≤−1.5 (N) |
|---|---|---|---|---|---|---|---|---|
1 | 3 | F (1) | 17 (134) | 308 (1437) | 40 | 39 | 15 (38) | 7 (35) |
T-F (29) | 15 (106) | 78 (296) | 48 | 44 | 18 (36) | 7 (34) | ||
T (30) | 10 (68) | 42 (175) | 27 | 27 | 12 (25) | 5 (23) | ||
2 | 2 | F (3) | 4 (58) | 60 (270) | 53 | 22 | 9 (18) | 1 (14) |
T-F (27) | 9 (73) | 89 (369) | 146 | 135 | 12 (28) | 1 (25) | ||
T (30) | 2 (34) | 9 (39) | 19 | 16 | 5 (13) | 0 (11) | ||
3 | 3 | F (2) | 9 (68) | 151 (862) | 23 | 23 | 9 (20) | 1 (14) |
T-F (28) | 13 (92) | 67 (309) | 38 | 38 | 17 (25) | 5 (20) | ||
T (30) | 6 (32) | 24 (104) | 16 | 16 | 7 (10) | 1 (7) | ||
4 | 3 | F (0) | 31 (283) | 394 (2198) | 54 | 46 | 34 (90) | 4 (86) |
T (30) | 4 (34) | 20 (72) | 19 | 17 | 5 (14) | 1 (14) | ||
5 | 3 | F (3) | 16 (83) | 93 (391) | 68 | 22 | 7 (20) | 1 (15) |
T-F (27) | 14 (113) | 89 (430) | 52 | 45 | 14 (35) | 7 (28) | ||
T (30) | 5 (36) | 18 (67) | 11 | 9 | 4 (9) | 1 (6) | ||
Mean (1–5) | 21 | F | 15.4 ± 10.21 (125) | 251.5 ± 143.83 (1032) | 47 ± 16.95 | 30.4 ± 11.33 | 14.8 ± 9.96 | 2.8 ± 2.4 |
T-F | 12.75 ± 2.63 (96) | 85 ± 28.66 (351) | 71 ± 50.35 | 65.5 ± 46.44 | 13.5 ± 4.38 | 5.0 ± 2.44 | ||
T | 5.2 ± 2.97 (51) | 31 ± 13.94 (155) | 28.2 ± 5.81 | 5.81 ± 6.44 | 6.60 ± 2.87 | 1.6 ± 1.74 |