Fig. 1: Estimates of the fraction of patients attributable to autosomal recessive coding variants or de novo coding mutations in DDD and GeneDx across seven large GIA sub-groups (n = 25,523). | Nature Genetics

Fig. 1: Estimates of the fraction of patients attributable to autosomal recessive coding variants or de novo coding mutations in DDD and GeneDx across seven large GIA sub-groups (n = 25,523).

From: Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

Fig. 1: Estimates of the fraction of patients attributable to autosomal recessive coding variants or de novo coding mutations in DDD and GeneDx across seven large GIA sub-groups (n = 25,523).

a, Estimated attributable fraction per GIA sub-group. The de novo attributable fractions (lighter shading) are stacked on the autosomal recessive attributable fractions (darker shading), with the total height of the bars being the sum of the attributable fractions. Lines show 95% confidence intervals (CIs). b, Estimated attributable fraction owing to de novo coding mutations (left) or autosomal recessive coding variants (right) versus average autozygosity (FROH) for these seven GIA sub-groups (see Table 1). Colored lines, 95% CIs. The black line is the line of best fit and gray shading shows its 95% CI. c, Comparison of the proportion of the total sample size (left) versus the proportion of the total autosomal recessive attributable fraction (right) accounted for by each GIA sub-group.

Back to article page