Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian ...

The frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies.

In addition to the surprising revelation that our chromosomes harbor fewer genes than originally predicted, the Human Genome Project also unveiled that all individuals share approximately 99.9% of ...