Properties and rates of germline mutations in humans

摘要: All genetic variation arises via new mutations; therefore, determining the rate and biases for different classes of mutation is essential understanding genetics human disease evolution. Decades analyses have focused on a relatively small number loci because technical limitations. However, advances in sequencing technology allowed empirical assessments genome-wide rates mutation. Recent studies shown that 76% mutations originate paternal lineage provide unequivocal evidence an increase with age. Although most single nucleotide variants (SNVs), begun to insight into other variation, including copy (CNVs), microsatellites, mobile element insertions (MEIs). Here, we review several types suggest areas future research.