Table 1 Summary of GA4K probands in study cohort

From: Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

Probands, N

3059

Sex (Female), N (%)

1434 (46.9)

Ancestry, N (%):

 EUR

2641 (86.3)

 AMR

254 (8.3)

 AFR

114 (3.7)

 EAS

37 (1.2)

 SAS

13 (0.5)

Age in years at enrollment, mean (SD)

8.8 (6.2)

Number of HPO terms, mean (SD)

6.7 (4.7)

Diagnostic statusa, N (%):

 Diagnostic

776 (47.1)

 VUS/GUS

461 (28.0)

 Negative

233 (14.1)

 Otherb

178 (10.8)

  1. a Diagnostic status for 54% of GA4K cohort who had completed clinical genetic testing at time of this study.
  2. b “Other” diagnostic category includes (N): partial diagnosis (117); partial genotype (61).
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