Article
Genetic variation across and within individuals.
Nature reviews. Genetics - 1 Aug 2024
Yu Zhi, Coorens Tim H H, Uddin Md Mesbah, Ardlie Kristin G, Lennon Niall, Natarajan Pradeep
Abstract excerpt
Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between individuals and accumulate over generations. By contrast, somatic mutations accumulate throughout life in a mosaic manner within an individual due to intrinsic and extrinsic sources of mutations and selection pressures acting on...
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