A key step in the analysis of rare variants in disease is to distinguish genetic variants that are likely to
disturb gene function.
In these studies, sequence data from several thousands of individuals is compared to find disease - associated genes where cases have a higher load of genetic variants that are likely to
disturb gene function, compared to the controls.
Not exact matches
Walsh and colleagues found that knocking out this
gene disturbs the centriole's organization and
function, suggesting an underlying biochemical mechanism for the brain deficits seen in the ferrets.