![]() 42, 677–693, 1988) along with the more familiar odds ratio (OR) estimate. Thus, in this corrigendum, an estimate more appropriate for population-level inference is provided assuming a general disease prevalence of 5.3% ( Am. That formulation is biased upwards with respect to population-level penetrance. A simple definition of penetrance is used that is often applied in medical genetics-namely, the proportion of observed mutation carriers that are affected-to provide a metric that would be useful to clinical geneticists in a setting in which disease is heavily enriched, for example, in diagnosing children with developmental delay. In the version of this article initially published, in Table 1 and its associated text, there was a calculation error in which the relative sizes of the case and control populations were set to be equal because the size of the case population (15,767) was nearly double that of the control population (8,329), this resulted in erroneously inflated penetrance estimates. This evolving CNV morbidity map, combined with exome and genome sequencing, will be critical for deciphering the genetic basis of developmental delay, intellectual disability and autism spectrum disorders. We also developed methods to opportunistically discover small, disruptive CNVs within the large and growing diagnostic array datasets. We identified 59 pathogenic CNVs, including 14 new or previously weakly supported candidates, refined the critical interval for several genomic disorders, such as the 17q21.31 microdeletion syndrome, and identified 940 candidate dosage-sensitive genes. We observed a greater enrichment of CNVs in individuals with craniofacial anomalies and cardiovascular defects compared to those with epilepsy or autism. ![]() We estimate that ∼14.2% of disease in these children is caused by CNVs >400 kb. To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls.
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