Lithuanian population

Background. De novo mutations are the source of all evolutionary adaptations and heritable diseases, therefore characteriztng their properties and the rate at which they arise is of fundamental importance in studies of human genome evolution. Due to technical limitations decades of mutation rate and properties’ analyses have focused on a relatively small number of loci using fully penetrant dominant Mendelian diseases and model organisms. However, advances in sequencing technology allow for an empirical assessments of mutation in the whole genome.