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Updated: Mar 14, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
Andrea Ganna1,2,3,4, Giulio Genovese2,3,5, Daniel P Howrigan1,2,3
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
Abstract:
Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly brain-expressed genes and explained more YOE variance than pathogenic copy number variation but less than common variants. Disruptive, damaging ultra-rare variants in highly constrained genes influence the determinants of YOE in the general population.
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