De novo CMA detected events are more enriched in GU patients than in individuals without urogenital abnormalities.

Footnotes: Two-tailed Fisher's exact test was used to evaluate the association of CMA detected de novo events with urogenital defects. *: GU cases (n = 90 out of the total of 116 analyzed GU children) and non GU controls (n = 8951) run only on CMA V.6.1 and CMA Oligo V6, since de novo events were specifically observed in GU patients screened with these two qualitatively comparable platforms (n = 10; see Table 6); [21]. See Statistical Analysis in Methods for details.