Table 2.

Breakdown of validated variant calls across Cincinnati and Harvard arrays

	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)