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 cells. Recent advancements, such as improved detection methods and increased resources for association studies, have drastically expanded our ability to investigate germline and somatic genetic variation and compare underlying mutational processes. A better understanding of the similarities and differences in the types, rates and patterns of germline and somatic variants, as well as their interplay, will help elucidate the mechanisms underlying their distinct yet interlinked roles in human health and biology.

种系变异和体细胞突变错综复杂地联系在一起，共同塑造人类特征和疾病风险。种系变异从受孕时就存在，但它们在个体之间存在差异，并且会在几代人中积累。相比之下，由于突变的内在和外在来源以及作用于细胞的选择压力，体细胞突变在个体的一生中以镶嵌方式积累。最近的进展，例如改进的检测方法和增加关联研究的资源，极大地扩展了我们研究种系和体细胞遗传变异以及比较潜在突变过程的能力。更好地了解种系和体细胞变异的类型、发生率和模式的异同及其相互作用，将有助于阐明它们在人类健康和生物学中独特但相互关联的作用背后的机制。