Figure 1.

Association of phenotypes with presence of likely pathogenic de novo mutations (DNMs). Association of phenotypes with presence of likely pathogenic de novo mutations (DNMs). a, Odds ratios for binary phenotypes. Positive odds ratios are associated with increased risk of pathogenic DNMs when the phenotype is present. P-values are given for a Fisher’s Exact test. b, Beta coefficients from logistic regression of quantitative phenotypes versus presence of a pathogenic DNM. All phenotypes aside from length of autozygous regions were corrected for gender as a covariate. The developmental milestones (age to achieve first words, walk independently, sit independently and social smile) were log-scaled before regression. The growth parameters (height, birthweight and occipitofrontal circumference (OFC)) were evaluated as absolute distance from the median. c, Relationship between length of autozygous regions chance of having a pathogenic DNM. The regression line is plotted as the dark gray line. The 95% confidence interval for the regression is shaded gray. The autozygosity lengths expected under different degrees of consanguineous unions are shown as vertical dashed lines. n, number of individuals in each autozygosity group. d, Relationship between age of fathers at birth of child and number of high confidence DNMs. n, number of high confidence DNMs. e, Relationship between age of mothers at birth of child and number of high confidence DNMs. Error bars indicate 95% c.i. n, number of high confidence DNMs.