A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.

ABSTRACT: A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale genomic screens. Yet, knowledge of disease incidence is important for clinicians and researchers to guide health policy planning. Here, we adjusted a statistical method based on genetic data to predict, for the first time, the incidences of 101 known de novo variant-associated neurodevelopmental disorders as well as 3106 putative monogenic disorders. Two corroboration analyses supported the validity of the calculated estimates. First, greater predicted gene-disorder incidences positively corr

SUBMITTER: Lopez-Rivera JA 

PROVIDER: S-EPMC7174049 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature