Table 2.
Harvard (26 arrays) | Cincinnati (13 arrays) | |||
---|---|---|---|---|
Total | Per array average | Total | Per array average | |
Total variants | 411 | 16 | 192 | 15 |
Total unique variants | 50 | 16 | 61 | 15 |
Common variants detected | ||||
Correctly called | 292 | 11 | 141 | 11 |
No call | 57 | 2.2 | 23 | 1.8 |
Missed call (het vs. hom) | 8 | 0.3 | 10 | 0.8 |
Called wild-type | 10A | 0.4 | 0 | 0 |
Rare variants detected (1 case) | ||||
Correctly called | 30 | 1.2 | 10 | 0.8 |
No call | 12 | 0.5 | 5 | 0.4 |
Missed call (het vs. hom) | 2 | 0.1 | 0 | 0 |
Called wild-type | 0 | 0 | 3B | 0.2 |
A: All 10 wild-type calls (false negatives) were due to a single repeatedly miscalled common benign variant in MYO7A (4755T>C; S1585S).
B: False negatives were from CDH23 (2761C>T, L921L), MYO7A (4831C>T, L1611L) and KCNQ1 (1185C>T, F395F)