Approximately 15% of genes within these CNVs are known to underlie Mendelian monogenic disease phenotypes ... with the penetrance of dominant traits that are caused by mutations in genes that ...

These investigations include fine mapping, genomic analysis of gene expression in human tissues, investigation of risk SNPs as modifiers of monogenic traits, screens for somatic mutations on ...

In contrast, monogenic (mendelian) forms of hypertension are caused by single gene mutations that are influenced little, if at all, by environmental factors. Most monogenic forms of hypertension ...