Extended Data Fig. 2: The combined effects of dnLoF, inhLoF and sex on the transmission of rare variants in families.
a, A significant liability threshold for rare variants was evident based on a negative correlation of dnLoF and inhLoF (linear regression P = 0.03), and this effect did not differ significantly by sex. b, Case-control odds ratios were compared for the transmission rates in families by sex (father-daughter, mother-daughter, father-son, mother-son). Both maternal and paternal rare variants contribute to ASD with a significant over-transmission from mother to daughter and from father to son. We did not observe a significant sex bias in the transmission of rare variants in families. In particular, we did not observe an enriched transmission from mother to male cases as we have previously hypothesized8.
