Hello,

Can exome sequencing lead to misdiagnosis (false-positive result) of unidentified Mendelian disease if variant is found in a gene which can also have deleterious variants in control or healthy people?

What can explain the presence of high frequency of healthy people with deleterious mutations in Mendelian disease gene in exome variants server (EVS)? Given that Mendilan diseases are so rare (low prevalence) to be seen at high frequency in quite small cohort