Copy number variations and cognitive phenotypes in unselected populations.

ABSTRACT:

Importance

The association of copy number variations (CNVs), differing numbers of copies of genetic sequence at locations in the genome, with phenotypes such as intellectual disability has been almost exclusively evaluated using clinically ascertained cohorts. The contribution of these genetic variants to cognitive phenotypes in the general population remains unclear.

Objective

To investigate the clinical features conferred by CNVs associated with known syndromes in adult carriers without clinical preselection and to assess the genome-wide consequences of rare CNVs (frequency ≤0.05%; size ≥250 kilobase pairs [kb]) on carriers' educational attainment and intellectual disability prevalence in the general population.

Design, setting, and participants

The population bioba

SUBMITTER: Mannik K 

PROVIDER: S-EPMC4684269 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature