Somatic genetic variants in the human brain. Homo sapiens

Somatic mutations during stem cell division are responsible for several cancers. In principle, a similar process could occur during the intense cell proliferation accompanying human brain development, leading to the accumulation of regionally distributed foci of mutations. Using ultra-high depth sequencing, our goal was to detect the somatic mutations across different brain regions.

干细胞分裂过程中发生的体细胞突变（somatic mutation）是多种癌症的致病诱因。理论上，在伴随人类大脑发育的剧烈细胞增殖过程中，同样可能发生此类过程，进而导致突变灶在不同脑区累积分布。本研究借助超高深度测序（ultra-high depth sequencing）技术，旨在检测不同脑区中的体细胞突变。