Table 2 Demographic and diagnostic information for the cohort based on the whole-genome sequencing results

From: Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

 

Positive

Inconclusive

Negative

Total

Gender

 Male (56%)

4 (7%)

4 (7%)

53 (87%)

61

 Female (44%)

6 (13%)

1 (2%)

40 (85%)

47

Age

 Adult (9%)

0

0

10 (100%)

10

 Pediatrics (91%)

10 (10%)

5 (5%)

83 (85%)

98

Consanguinity

 Yes (70%)

6 (8%)

4 (5%)

66 (87%)

76

 No (30%)

4 (13%)

1 (3%)

27 (84%)

32

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