Skip to main content

Table 2 Breakdown of validated variant calls across Cincinnati and Harvard arrays

From: High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

 

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

  1. A: All 10 wild-type calls (false negatives) were due to a single repeatedly miscalled common benign variant in MYO7A (4755T>C; S1585S).
  2. B: False negatives were from CDH23 (2761C>T, L921L), MYO7A (4831C>T, L1611L) and KCNQ1 (1185C>T, F395F)
Back to article page

BMC Biotechnology

ISSN: 1472-6750

Contact us