on behalf of the Deciphering Developmental Disorders study

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.