Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans.

摘要: Traditionally, population genetics focuses on the dynamics of frequencies alleles acquired by mutations germ-lines, because only such are heritable. Typical genotyping experiments, however, use DNA from some somatic tissues as blood, which harbors at current generation in addition to germ-line accumulated since most recent common ancestor sample. This practice may sometimes cause erroneous interpretations polymorphism data, unless we properly understand role genetics. We here introduce a very basic theoretical framework with taken into account. It is easy imagine that simply add individual-specific variations, errors mutation detection do. Our theory quantifies this increment under various conditions. find major contribution plus rare variants, particularly singletons. The relative markedly large when deleterious. Because negative selection also increases it important distinguish roles these mutually confounding factors interpret even after correcting for demography. apply human copy number variations (CNVs), composite effect and not be negligible. Using genome-wide CNV demonstrate how joint action two factors, errors, shapes observed pattern polymorphism.